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FLASH GENE
Symbol TUBB2A contributors: mct/npt - updated : 28-04-2014
HGNC name tubulin, beta 2A
HGNC id 12412
Corresponding disease
CDCBM5 cortical dysplasia with other brain malformations-5
Location 6p25.2      Physical location : 3.153.903 - 3.157.783
Synonym name tubulin, beta polypeptide 2
Synonym symbol(s) TUBB, TUBB2, dJ40E16.7, TUBB2B
DNA
TYPE functioning gene
STRUCTURE 3.88 kb     4 Exon(s)
MAPPING cloned Y linked N status confirmed
Map pter - D6S344 - TUBB2A - D6S1617 - D6S1713 - cen
Authors UCSC (2009)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 1621 49.8 445 - 2010 20191564
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , dimer
HOMOLOGY
interspecies homolog to rattus Tubb2a (100 pc)
homolog to murine Tubb2a (100 pc)
Homologene
FAMILY
  • tubulin family
  • CATEGORY enzyme , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    basic FUNCTION
  • being the major constituent of microtubules
  • acting as a GTPase
  • can modulate Notch signaling in cancer cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text microtubule-based movement
    PATHWAY
    metabolism
    signaling
    a component
  • dimer of alpha and beta chains
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • is a ZNRF1-binding protein (ZNRF1 interacts with TUBB2A2, suggesting that ZNRF1 is colocalized with TUBB2A)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDCBM5
    Susceptibility to paclitaxel neuropathy
    Variant & Polymorphism
  • variants protected from paclitaxel-induced peripheral neuropathy and paclitaxel neuropathy risk is influenced by polymorphisms regulating the expression of TUBB2A
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS