KIAA1704 [SEP] found in taxon
(macrophage-like human cell line) when treated with nicotine.
Gene.
Gene Location.
KIAA1704 is found on the chromosome 13, at locus q14.12, with the genomic sequence starting at 45,563,687 bp and ending at 45,602,405 bp.
Gene Gene Neighborhood.
KIAA1704 is located on the positive strand surrounded by 5 nearby genes.
Positive Orientation
- General Transcription Factor IIF (GTF2F2) is further downstream directed in the same orientation. Functionally, it binds to RNA Polymerase II.
Negative Orientation
- Nuclear
.
Clinical significance.
KIAA1704 has at least a 5 fold expression loss associated with mantle cell lymphoma.
In a second study, researchers used a linkage disequilibrium mapping study of locus 13q13-14 to investigate potential susceptibility for autism over a 1.5 Mb linkage peak, including KIAA1704. A single marker PDTPhase analysis was performed for four SNPs for KIAA1704; however, none of the SNPs were statistically significant in associating the marker with the loci.
An expression study found that KIAA1704 is significantly up-regulated in U937 cells