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FLASH GENE
Symbol TUBB4B contributors: mct/npt - updated : 24-01-2018
HGNC name tubulin beta 4B class IVb
HGNC id 20771
Corresponding disease
LCAHL Leber congenital amaurosis (LCA), associated with sensorineural hearing loss
Location 9q34.3      Physical location : -
Synonym name
  • class IVb beta tubulin
  • tubulin beta-2 chain
  • tubulin, beta 2C
  • Synonym symbol(s) TUBB2, Beta2, TUBB2C
    DNA
    TYPE functioning gene
    STRUCTURE 2.45 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1591 - 445 - 2017 29198720
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiensFetal
    Visualeyeretina    Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • tubulin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    basic FUNCTION
  • may contribute to the determination of the specific association of MAPs with microtubules of diverse function (Burgoyne 1988)
  • small changes in sequence or post-translational modification of the unstructured tails of TUB1A, TUBB4B result in substantial changes in VDAC closure
  • specific requirement for TUBB4B in retinal development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCAHL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS