lem-2 encodes the ortholog of the vertebrate LEM2 and MAN1 proteins and contains a LEM domain which is a defining 40 amino acid motif shared by a family of nuclear envelope proteins; LEM family proteins bind to lamins and to the small inner nuclear membrane associated protein BAF; LEM-2 provides an anchor by which chromosomes are attached to the nuclear membrane; lem-2 together with the LEM domain protein emr-1/emerin, bind lmn-1/lamin and are required for viability and proper chromosome segregation; LEM-2 localizes to the nuclear membrane; lem-2 mutations also exhibit moderate hypersensitivity to DNA damage.
Enables chromatin DNA binding activity and lamin binding activity. Involved in several processes, including mitotic cytokinesis; organelle organization; and response to X-ray. Located in chromosome and nuclear envelope. Used to study Emery-Dreifuss muscular dystrophy and cataract 46 juvenile-onset. Human ortholog(s) of this gene implicated in Buschke-Ollendorff syndrome and cataract 46 juvenile-onset. Is an ortholog of human LEMD2 (LEM domain nuclear envelope protein 2) and LEMD3 (LEM domain containing 3).
Inferred by orthology to human genes with DO annotation (HGNC:21244)
Disease_relevance
Mutations in the human ortholog of lem-2, LEMD3, which encodes the MAN1 nuclear membrane protein, are found in Buschke-Ollendorff syndrome, Melorheostosis and Osteopoikilosis; MAN1 belongs to the family of LEM domain proteins that bind lamin and include nuclear lamina proteins like Emerin, LEM2/NET25, and several others; much of the knowledge of the organization and assembly of the nuclear lamina has come from studies in elegans; studies in elegans have demonstrated the overlapping roles of emerin and LEM-2 in embryogenesis, cell proliferation, lamin and heterochromatin organization; worm emerin and lem-2 are also involved in mitosis, smooth and striated muscle function, lifespan and meiotic progression, pointing to the many underlying processes that may affect disease phenotypes.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.