Alternative titles; symbols
HGNC Approved Gene Symbol: TEX28
Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,271,265-154,295,211 (from NCBI)
Hanna et al. (1997) analyzed ESTs from a variety of human cDNA libraries and identified a sequence identical to intergenic regions of the red (RCP, or OPN1LW; 300822) and green (GCP, or OPN1MW; 300821) color pigment gene cluster. The EST was derived from a testis cDNA clone. The longest open reading frame encodes a polypeptide of 410 amino acids. A 1.8-kb transcript of the gene, which the authors called TEX28, was detected in testis, but not in other tissues examined.
Using PCR, Chen et al. (2006) detected high expression of TEX28 in testis and marginal expression in prostate, spleen, brain, breast, pancreas, and placenta.
Hanna et al. (1997) determined that the TEX28 gene contains 5 exons and spans at least 96% of the 25.5 kb between the GCP and transketolase-2 (TKTL1; 300044) genes. It is transcribed in the orientation opposite to GCP and TKTL1.
By genomic sequence analysis, Hanna et al. (1997) mapped the TEX28 gene between the GCP and TKTL1 genes on chromosome Xq28. They determined that TEX28 is repeated multiple times within the color pigment gene array on chromosome Xq28, but exclusion of exon 1 from the duplicative copies suggested that transcription is restricted to the copy between the GCP and TKTL1 genes. Hanna et al. (1997) suggested that color vision disorders that result from deletion of the color pigment genes should be reappraised for possible associated phenotypes that might derive from disruption of the TEX28 gene.
Chen et al. (2006) determined that there are 3 exact copies of the TEX28 gene on chromosome Xq28.
Metlapally et al. (2009) used array CGH to study copy number variation (CNV) in 5 families segregating X-linked high myopia with cone dysfunction (300843), and found that affected individuals from 4 of the families had either a greater (4 or 5) or fewer (1) number of copies of CXORF2 than the 3 copies found in unaffected individuals. Metlapally et al. (2009) suggested that CXORF2 gene CNVs appear to be associated with the X-linked myopia and cone dysfunction phenotype.
Chen, Y.-T., Iseli, C., Venditti, C. A., Old, L. J., Simpson, A. J. G., Jongeneel, C. V. Identification of a new cancer/testis gene family, CT47, among expressed multicopy genes on the human X chromosome. Genes Chromosomes Cancer 45: 392-400, 2006. [PubMed: 16382448] [Full Text: https://doi.org/10.1002/gcc.20298]
Hanna, M. C., Platts, J. T., Kirkness, E. F. Identification of a gene within the tandem array of red and green color pigment genes. Genomics 43: 384-386, 1997. [PubMed: 9268643] [Full Text: https://doi.org/10.1006/geno.1997.4830]
Metlapally, R., Michaelides, M., Bulusu, A., Li, Y.-J., Schwartz, M., Rosenberg, T., Hunt, D. M., Moore, A. T., Zuchner, S., Rickman, C. B., Young, T. L. Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Invest. Ophthal. Vis. Sci. 50: 1552-1558, 2009. [PubMed: 19098318] [Full Text: https://doi.org/10.1167/iovs.08-2455]