Alternative titles; symbols
HGNC Approved Gene Symbol: TUBA3C
Cytogenetic location: 13q12.11 Genomic coordinates (GRCh38): 13:19,173,772-19,181,824 (from NCBI)
See 602529 for general information about the alpha-tubulin gene family.
See Khodiyar et al. (2007) for a revised nomenclature of the alpha-tubulin gene family.
In a search for genes involved in 2 forms of nonsyndromic deafness that map to 13q11, Dode et al. (1998) screened a mouse cochlear cDNA library with a YAC from that region. They identified an alpha-tubulin gene and cloned the human homolog, which showed identity to an EST named TUBA2. The TUBA2 gene encodes a 450-amino acid protein that is identical to the mouse testis-specific alpha-tubulins, M-alpha-3 and M-alpha-7 (see TUBA1; 191110).
Dode et al. (1998) noted that the TUBA2 gene contains 5 exons and spans at least 6.5 kb. All 4 of its introns are located at conserved positions. The 3-prime untranslated region of TUBA2 is 85% homologous to that of TUBA1.
Although Dode et al. (1998) identified the TUBA2 gene on chromosome 13q11 within a region containing loci for nonsyndromic deafness, they noted that another gene was proven to be responsible for the disorders.
Khodiyar et al. (2007) stated that the TUBA3C gene maps to chromosome 13q12.11.
Dode, C., Weil, D., Levilliers, J., Crozet, F., Chaib, H., Levi-Acobas, F., Guilford, P., Petit, C. Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). Genomics 47: 125-130, 1998. [PubMed: 9465305] [Full Text: https://doi.org/10.1006/geno.1997.5081]
Khodiyar, V. K., Maltais, L. J., Ruef, B. J., Sneddon, K. M. B., Smith, J. R., Shimoyama, M., Cabral, F., Dumontet, C., Dutcher, S. K., Harvey, R. J., Lafanechere, L., Murray, J. M., Nogales, E., Piquemal, D., Stanchi, F., Povey, S., Lovering, R. C. A revised nomenclature for the human and rodent alpha-tubulin gene family. Genomics 90: 285-289, 2007. Note: Erratum: Genomics 93: 397 only, 2009. [PubMed: 17543498] [Full Text: https://doi.org/10.1016/j.ygeno.2007.04.008]