TMEM212

Content sourced from Wikipedia, licensed under CC BY-SA 3.0.

TMEM212 is a small human transmembrane protein that crosses the cell membrane five times. It is found in the plasma membrane and the endoplasmic reticulum and is encoded on chromosome 3 (3q26.3). The gene has two mRNA variants, producing a protein about 194 amino acids long with an estimated weight of 21 kDa and a basic pH of about 8. Its structure is predicted to be rich in alpha helices and to be conserved across vertebrate species.

In tissues, TMEM212 is usually present at low levels but is higher in ovaries, brain, lungs, heart, kidneys, and testes. It has also been detected in specific brain regions and is consistently seen in lung tissue in RNA data. The protein is conserved among vertebrates but has no invertebrate counterparts. It has one known paralog, MS4A7, on chromosome 11, which likely arose from TMEM212 several hundred million years ago.

TMEM212 can interact with other proteins, including TMEM45A, GPR137C, and HNRNPL, suggesting roles at the cell surface. Evolutionary analyses show TMEM212 is fairly conserved in vertebrates, especially in the transmembrane regions.

Two isoforms exist; one of them is shorter because part of the last exon is missing. The protein has five transmembrane segments, with most regions being non-polar, though two segments contain charged residues. It is predicted to have three disulfide bonds and no internal repeats.

Genetic studies have linked TMEM212 to several traits and diseases. Variants near the gene have been associated with adiposity in African Americans and with facial processing in the brain (altered activation in the fusiform gyrus). A different variant has been linked to sporadic Parkinson’s disease risk. The gene likely has multiple promoters, with the main one located just upstream of TMEM212. The untranslated regions are short at the 5’ end and relatively long at the 3’ end, with RNA structures predicted in the 3’ region.