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FLASH GENE
Symbol TUBB3 contributors: mct/npt/shn/pgu - updated : 03-04-2011
HGNC name tubulin, beta 3
HGNC id 20774
Corresponding disease
CFEOM3A congenital fibrosis of the extraocular muscles, 3
PMGAD polymicrogyria with axon guidance defects
Location 16q24.3      Physical location : 89.989.744 - 90.002.505
Synonym name
  • tubulin beta-3 chain
  • tubulin beta-4 chain
  • tubulin beta-III
  • Synonym symbol(s) TUBB4, MC1R, beta-4, CFEOM3A
    DNA
    TYPE functioning gene
    STRUCTURE 12.76 kb     4 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - D16S3026 - D16S3121 - TUBB3 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 1736 - 450 - 2010 20074521
    5 splicing 1851 - 378 - 2010 20074521
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue (see gustatory)   
     salivary gland   highly
    Endocrinepancreas    
    Lymphoid/Immunetonsils   moderately
    Nervousbrain   highly
     nervecranial nerve  moderately
     nerve   predominantly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion moderately in lymph
    at STAGE
    physiological period embryo
    Text moderately in embryonic tissue
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • a highly acidic C-terminal region that may bind cations such as calcium
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to Tubb3, Mus musculus
    ortholog to Tubb3, Rattus norvegicus
    Homologene
    FAMILY
  • tubulin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • acting as a GTPase
  • acting as a melanocyte stimulating hormone receptor
  • acting as a rhodopsin-like receptor
  • betaIII-tubulin diminishes microtubule assembly, is toxic when present at high levels, but is able to confer weak resistance to paclitaxel when expressed at moderate levels in mammalian cells
  • survival factor able to directly contribute to drug resistance
  • required for axon guidance and maintenance, and necessary for guidance of commissural fibers and cranial nerve
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    G-protein coupled receptor protein signaling pathway
    a component
  • involved in a heterodimer of alpha and beta chains
  • being the major constituent of microtubules
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP (two moles, one at an exchangeable site on the beta chain and one at a nonexchangeable site on the alpha-chain)
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CFEOM3A , PMGAD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in most tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene marker of drug resistance in human cancer
    Marker
    Therapy target
    ANIMAL & CELL MODELS