TUBB3

tubulin beta 3 class III

Ensembl:
ENSG00000258947
UniProt:
Q13509
OMIM:
602661
Synonyms:
BETA-4, CFEOM3, CFEOM3A, FEOM3

Cilia effects upon perturbation of TUBB3

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.69) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation; congenital fibrosis of the extraocular muscles

Ciliopathy associations

  • Intellectual Developmental Disorder

Subcellular localization

basal body, cilia, flagella

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Neurogenesis & migration
  • Viral interactions
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Axon guidance & growth

Function

Beta tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule.