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Introduction
TMEM248, also known as C7orf42, is a gene that is found in humans and encodes a transmembrane protein. This gene contains four transmembrane domains, and is composed of six exons. It is an integral membrane component involved in vesicular transport. It is highly conserved in vertebrates, and has homologs in invertebrates as well. TMEM248 may play a role in cell proliferation, implicating it in cancer pathogenesis.

Gene
TMEM248 (transmembrane protein 248), or C7orf42 (chromosome 7, open reading frame 42) is predicted to be an integral component of the plasma membrane. It has low tissue specificity, meaning it is expressed in most tissues throughout the human body. TMEM248 has cytoplasmic expression in multiple different tissue types, but is the most abundant in the gastrointestinal tract. TMEM248 may play a role in cancer development. It was shown to be more highly expressed in cases of colon, breast, lung, ovarian, brain, and renal cancers.

Protein
The polypeptide chain of TMEM248 protein (transmembrane protein 248) is 314 amino acids long. The molecular weight of the protein is approximately 35,000 Da. The subcellular location of TMEM248 is in the membranes of vesicles. TMEM248 is a multi-pass, integral component of the membrane, functions in protein binding and nonspecific vesicular transport. It has a basal isoelectric point of 5.91pH. TMEM248 has both low tissue and single cell type specificity, but single cell expression cluster is in macrophages. Experimentally determined post translational modifications include a glycosylation and ubiquitylation. Homologs

Homologs of the TMEM248 gene are found in vertebrates and invertebrates. The most distant orthologs of TMEM248 are in echinoderms, mollusks, and arthropods, which diverged approximately 680 million years ago. Orthologs of TMEM248 were not found in fungi, plants, or bacteria. TMEM248 has two paralogs in humans: TMEM219 and insulin-like growth factor (IGF) binding protein 3 receptor isoform 2 precursor. TMEM219 is a paralog with 34.9% similarity and 21.1% identity to TMEM248. IGF binding protein 3 receptor isoform 2 precursor is a paralog in humans that has 36.4% similarity and 21.9% identity to TMEM248. TMEM248 sequence was entered into the query sequence box, and it was searched for in homo sapiens.

Connections to Cancer
TMEM248 has proposed connections to various forms of cancer. Mutations in the gene have been recorded in tumor samples from stomach, colorectal, lung, bladder, ovarian, endometrial, and breast cancer. undefinedOf the tumor samples observed, stomach tumors were most likely to contain mutations of TMEM248. There is relatively higher expression of TMEM248 in colon, breast, lung, ovarian, brain, and renal cancer. Multiple myeloma (plasma cell cancer that results from unrestricted proliferation of B cells in bone marrow) progression and drug sensitivity could regulate TMEM248 expression. These experimentally determined conclusions implicate TMEM248 playing a role in cell proliferation, and make expression of TMEM248 a potential candidate for more intensive studies in the development of cancer in these organs. However, the TMEM248 gene product is not prognostic for cancer with the current available research.