Aliases for TUBB2A Gene
External Ids for TUBB2A Gene
Previous HGNC Symbols for TUBB2A Gene
Previous GeneCards Identifiers for TUBB2A Gene
Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
GeneCards Summary for TUBB2A Gene
TUBB2A (Tubulin Beta 2A Class IIa) is a Protein Coding gene. Diseases associated with TUBB2A include Cortical Dysplasia, Complex, With Other Brain Malformations 5 and Chondroid Chordoma. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB2B.
UniProtKB/Swiss-Prot for TUBB2A Gene
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).
Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).