C22orf15

The locus of C22orf15 in humans is on the long arm (q) of chromosome 22 in region 11, band 23 (22q11.23); it spans 3,340 base pairs on the plus strand from base pair 23,762,523 to 23,765,863 and contains ten introns and six exons. [5] [6]

Overview of C22orf15 gene transcript

C22orf15 Gene Neighborhood

C22orf15 is transcribed into 23 transcripts in Homo sapiens. [7]

C22orf15 in humans is 148 amino acids in length. The molecular weight of human C22orf15 is 17 kdal, and the isoelectric point is 9.0. C22orf15 does not have any unusually high or low amino acid compositions compared to other proteins in humans.[9]

C22orf15 Tertiary Structure[10]

The interleukin 2 receptor subunit gamma (II2rg) domain, which spans from amino acids 2-102 in C22orf15, facilitates the creation of the common gamma chain protein. This protein is a component of various receptors that aid in immune system function. These receptors direct and regulate the growth of lymphocytes, T cells, B cells, and natural killer cells, which promote immune response. [11] [12] [13]

C22orf15 is ubiquitously expressed at a low level with some variability among tissues. C22orf15 is expressed highest in the adrenal glands, salivary glands, trachea, heart, spinal cord, and skeletal muscle tissues. [15] [16]

C22orf15 microarray-assessed tissue expression pattern [17]

In an anti-C22orf15 antibody produced in rabbits, immunochemical staining shows strong cytoplasmic positivity in the glandular cells of the human colon.[18]

C22orf15 is localized in both the nucleus and cytoplasm. Antibody staining of glandular cells in the human colon shows strong cytoplasmic positivity. However, as seen on the conceptual translation, C22orf15 has conserved nuclear localization signals that would suggest nuclear localization as well. [19]

Homo Sapien C22orf15 Conceptual Translation

Orthologous sequences to C22orf15 in humans are found in mammals, aves, reptiles, amphibians, and fishes as seen in the C22orf15 orthologs table. C22orf15 has no paralogs and is not present in invertebrates (Porifera, Platyhelminthes, Nematoda, Annelida, Echinodermata, Mollusca, Arthropoda), fungi, or bacteria; the gene appears to have originated in cartilaginous fishes approximately 473 million years ago.[20]

Table of C22orf15 Orthologs

C22orf15 Evolutionary Rate

The slope of the trendline for C22orf15 more closely resembles the slope of the trendline for fibrinogen alpha chain, which evolves rapidly, as opposed to the slope of the trendline for cytochrome c, which evolves slowly. This signifies that C22orf15 is evolving rapidly, but not as rapidly as fibrinogen alpha chain.

C22orf15 Phylogeny

C22orf15 Phylogenetic Tree

There appears to be a linkage between C22orf15 and both gastric and breast cancers. A copy number loss of DNA region 22q11.23, which includes C22orf15, has been linked to chromosomal instability (CIN)-positive aneuploid gastric cancer. [21] DNA region 22q11.23 is also significantly more prevalent in basal-like BRCA1-mutated tumors compared to nonmutated wild-type BRCA1 tumors.[22] Additionally, C22orf15 is highly differentially expressed in breast cancer cells compared to unaffected mammary epithelial cells.[23]

Tetralogy of Fallot, a birth defect that alters normal blood flow through the heart, is a disease associated with C22orf15. [24] [25] Survival rate of Nasopharyngeal carcinoma has been found to negatively correlate with the expression of six specific genes, including C22orf15.[26] C22orf15 has also been identified as one of the 40 novel protein biomarkers that are risk factors for incident atrial fibrillation. [27]