TMEM201 Gene: Function, Expression, Mutations, and Disease Associations | Biomedical SEO

TMEM201 (Transmembrane Protein 201), also known as NET5 (Nuclear Envelope Transmembrane Protein 5) or SAMP1 (Spindle Associated Membrane Protein 1), encodes a nuclear envelope transmembrane protein. It is localized to the inner nuclear membrane and plays a role in maintaining nuclear architecture, anchoring the nucleus to the cytoskeleton, and facilitating cell migration. TMEM201 interacts with SUN1/SUN2 and lamin A/C, contributing to the LINC complex (Linker of Nucleoskeleton and Cytoskeleton). Emerging evidence links TMEM201 to cancer progression, particularly in breast cancer and hepatocellular carcinoma, where it promotes cell proliferation, migration, and invasion. Additionally, mutations in TMEM201 have been associated with atypical progeria syndromes, highlighting its importance in nuclear stability and aging.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• LINC complex pathway

• PI3K/AKT signaling pathway

• Nuclear envelope breakdown and reassembly

• Cell migration and invasion

TMEM201 is a 75 kDa nuclear envelope transmembrane protein with a conserved transmembrane domain and a coiled-coil region. It localizes to the inner nuclear membrane and interacts with SUN1/SUN2 and lamin A/C, forming part of the LINC complex that connects the nucleoskeleton to the cytoskeleton. This interaction is crucial for nuclear positioning, cell polarization, and migration. TMEM201 also contains a spindle-associated domain, suggesting roles in mitotic spindle organization. In cancer, TMEM201 overexpression enhances cell proliferation and metastasis through activation of the PI3K/AKT pathway. In progeria, mutations disrupt nuclear architecture, leading to premature aging phenotypes.