The TM6SF2 protein contains 377 amino acids and is 42,554 Da large with an isoelectric point of about 7.7.
Domains and motifs There is a domain of unknown function, DUF2781 ( pfam10914 family) spanning amino acids 218 to 359 in the C-terminus of the protein.
Secondary structure Several
alpha helices and beta strands are formed by the mature protein with as many as thirteen helices (including transmembrane helices) and fifteen
beta sheets predicted.
3° and 4° structure The protein side groups in this protein do not necessarily interact in a manner to form tertiary and quaternary structures. The cysteines present are not predicted to form stable
disulfide bonds.
Post-translational modifications Two main post-translational modifications occur;
phosphorylation at tyrosine, serine and tryptophan sites and two low probability sumoylation sites.
Expression patterns In humans, TM6SF2 expression has been documented in the adult stage only specifically in the intestine and liver in moderate amounts as well as embryonic tissue and ovary at low levels. Other sources indicate expression in brain, lung, testis, stomach, heart, colon, kidney and adipose tissue. Protein subcellular localization studies with confocal microscopy demonstrated that TM6SF2 is localized in the endoplasmic reticulum and the ER-Golgi intermediate compartment of human liver cells.
Protein interactions No known protein-protein interactions have been established thus far. ==Clinical significance==