User:Kunjpatel1995

C15orf52
C15orf52 is a gene located on chromosome 15 on the reverse strand of the species Homo sapiens. The gene is 9,516 base pairs long including introns and exons. The gene contains 12 distinct introns, 11 exons, produces 7 different mRNAs, 6 alternatively spliced variants and 1 complete, unspliced form. The linear mRNA is 5344 base pairs long. The mRNA contains a short 5’ untranslated region of 15 base pairs and a long 3’ untranslated region of 3782 base pairs. The protein contains a domain of unknown function (DUF4594 from amino acid 185 to 350). The protein, C15orf52, is a 534 amino acid long protein weighing 57.325 kDa found in Homo sapiens. C15orf52 has a coiled coil domain spanning amino acids 60-97 and has been implicated with phosphorylation at serines found at two locations, S201 and S392.

Expression
Origin of cDNAs of C15orf52 shows that the gene is expressed in numerous locations such as primary and secondary digestive organs (pancreas, stomach, liver, etc.), nervous system (brain, retina, lens), skin, reproductive organs, bones, and many other tissues suggesting a fairly nonspecialized function. However, C15orf52 protein is relatively overexpressed in the colon, peripheral blood mononuclear cells, testis, and rectum. Application of RNA-seq to plasma extracellular RNA profiles indicated C15orf52 as the most abundant mRNA present, possibly indicating some role outside of the cell. In mice, the expression pattern of C15orf52, as well as TCEA3 and FHOD3, two other genes studied, was found to be similar to that of well-characterized genes known to be associated with heart development such as BVES and CXCL12. However C15orf52 was not detected before embryological day 9.5 in the tail area and it’s exact function is not yet known.