Medina J F, Acín A, Prieto J
Department of Medicine, University Clinic and Medical School, University of Navarra, Pamplona, Spain.
Genomics. 1997 Jan 1;39(1):74-85. doi: 10.1006/geno.1996.4467.
The human AE2 gene (HGMW-approved symbol SLC4A2) encompasses over 17 kb and contains 23 exons intervened by 22 introns. The size range for the exons is 90-255 bp, whereas that for the introns is 80 bp to 2.2 kb. Exon 1 consists solely of 5'-untranslated sequence, and exon 2 encodes the amino-terminal end of the antiport protein. Primer extension experiments suggest that there are multiple transcription initiation sites in leukocytes. The putative promoter region of the human AE2 gene contains no obvious TATA or CCAAT elements in the expected positions but has GC boxes, proposed sites for binding Sp1 transcription factor. These features, as well as the presence of several consensus elements such as GATA, LBP-1, E-box, CACC box, and T-antigen motif, indicate that the human AE2 promoter resembles the erythroid promoter of the human AE1 gene. The human AE2 gene (which has been previously mapped to chromosome 7) has three more introns than the human AE1 gene (mapped to chromosome 17), but downstream of intron 7 in the AE2 gene (corresponding to intron 4 in the AE1 gene), these two genes show a rather similar exon/intron organization.
人类AE2基因（HGMW认可符号为SLC4A2）跨度超过17 kb，包含23个外显子，被22个内含子隔开。外显子的大小范围为90 - 255 bp，而内含子的大小范围为80 bp至2.2 kb。外显子1仅由5'非翻译序列组成，外显子2编码反向转运蛋白的氨基末端。引物延伸实验表明白细胞中有多个转录起始位点。人类AE2基因的推定启动子区域在预期位置没有明显的TATA或CCAAT元件，但有GC框，这是推测的与Sp1转录因子结合的位点。这些特征，以及几个共有元件如GATA、LBP - 1、E - 盒、CACC盒和T抗原基序的存在，表明人类AE2启动子类似于人类AE1基因的红系启动子。人类AE2基因（先前已定位到7号染色体）比人类AE1基因（定位到17号染色体）多三个内含子，但在AE2基因的内含子7下游（对应于AE1基因的内含子4），这两个基因显示出相当相似的外显子/内含子组织。
