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FLASH GENE
Symbol MYCBP2 contributors: mct - updated : 30-08-2011
HGNC name MYC binding protein 2
HGNC id 23386
Location 13q22.3      Physical location : 77.618.792 - 77.901.177
Synonym name
  • pam/highwire/rpm-1 protein/ PAM (protein associated with Myc)-HIW (Highwire)-RPM-1 (regulator of presynaptic morphology 1) protein
  • protein associated with Myc
  • Synonym symbol(s) AC001226.5, DKFZp686M08244, FLJ10106, FLJ13826, FLJ21597, PHR1
    DNA
    TYPE functioning gene
    STRUCTURE 282.38 kb     83 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    83 - 15025 510 4678 - 2011 21098484
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two PHR domains near the N-terminus, which are essential for proper localization and function
  • HOMOLOGY
    interspecies homolog to Caenorhabditis elegans rpm-1
    ortholog to Drosophila highwire
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    text
  • associated with the microtubule cytoskeleton within neurons and selectively localizes to axons but is excluded from growth cones
  • basic FUNCTION
  • plays essential roles in mammalian neural development
  • required for formation of major CNS axon tracts via a mechanism that is both cell-nonautonomous and independent of dual leucine zipper kinase
  • efficacious pathfinding requires MYCBP2 activity for coordinating the cytoskeletal organization that distinguishes axons from growth cones
  • conserved, large multi-domain E3 ubiquitin ligases with modular architecture
  • negatively regulates neuronal growth, synaptogenesis, and synaptic strength
  • modulates TRPV1 desensitization through MAPK14 signaling which presents not only a novel model for the modulation of TRPV1-mediated signals but also expands the role of MAPK14 in the regulation of activity-induced receptor internalization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with TRPV1 (regulates internalization of TRPV1 in peripheral sensory neurons as well as duration of thermal hyperalgesia through MAPK14)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    mice with a Mycbp2-deficiency in peripheral sensory neurons show prolonged thermal hyperalgesia