Alternative titles; symbols
HGNC Approved Gene Symbol: LUC7L2
Cytogenetic location: 7q34 Genomic coordinates (GRCh38) : 7:139,340,472-139,423,454 (from NCBI)
Howell et al. (2007) cloned Luc7l2 from an embryonic mouse cDNA library. The deduced full-length Luc7l2 protein contains 392 amino acids and has an N-terminal CCCH-type zinc finger, followed by a coiled-coil domain, a C2H2-type zinc finger, an arginine- and glutamine-rich (RE) region, an arginine- and serine-rich (RS) region, and a C-terminal arginine-rich (R) region. It also has 3 nuclear localization signals in the RS region. Howell et al. (2007) also identified Luc7l2 variants that used an alternative polyadenylation site in intron 9, resulting in a truncated 335-amino acid protein lacking the C-terminal R region, as well as variants exhibiting alternative splicing of exon 8, which removes the 5-prime end of the RS region. Northern blot analysis detected 2 major transcripts in mouse brain, kidney, heart, thymus, stomach, skeletal muscle, and testis. RT-PCR showed that all Luc7l2 variants were ubiquitously expressed in mouse tissues. EST database analysis suggested highest expression in lymph node, sympathetic ganglia, and midgestation embryos. Fluorescence-tagged Luc7l2 was expressed in a speckled nuclear pattern in transfected 293T cells.
The yeast ortholog of LUC7L2 is a spliceosomal protein involved in recognition of nonconsensus splice donor sites. Using a yeast 2-hybrid assay, Howell et al. (2007) showed that mouse Luc7l2 interacted with the C terminus of Scnm1 (608095), a protein involved in splicing at nonconsensus donor sites.
By genomic sequence analysis, Howell et al. (2007) mapped the LUC7L2 gene to chromosome 7q34. They mapped the mouse Luc7l2 gene to a region of chromosome 6 that shares homology of synteny with human chromosome 7q34.
Howell, V. M., Jones, J. M., Bergren, S. K., Li, L., Billi, A. C., Avenarius, M. R., Meisler, M. H. Evidence for a direct role of the disease modifier SCNM1 in splicing. Hum. Molec. Genet. 16: 2506-2516, 2007. [PubMed: 17656373] [Full Text: https://doi.org/10.1093/hmg/ddm206]