Entrez Summary: This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009].
UniProt Summary: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest. {ECO:0000269|PubMed:15601644, ECO:0000269|PubMed:15647271}.
Pfam DomainsGO Terms
Pfam Domains
MSC
LEM
GO Terms
negative regulation of activin receptor signaling pathway
integral component of nuclear inner membrane
regulation of activin receptor signaling pathway
nuclear inner membrane
negative regulation of BMP signaling pathway
nuclear envelope organization
negative regulation of transforming growth factor beta receptor signaling pathway
negative regulation of cellular response to transforming growth factor beta stimulus
regulation of BMP signaling pathway
regulation of transforming growth factor beta receptor signaling pathway
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
regulation of cellular response to transforming growth factor beta stimulus
nucleus organization
negative regulation of cellular response to growth factor stimulus
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
nuclear membrane
regulation of cellular response to growth factor stimulus
angiogenesis
blood vessel morphogenesis
endomembrane system organization
blood vessel development
vasculature development
cardiovascular system development
tube morphogenesis
tube development
membrane organization
circulatory system development
anatomical structure formation involved in morphogenesis
negative regulation of signal transduction
negative regulation of cell communication
negative regulation of signaling
DNA binding
negative regulation of response to stimulus
regulation of intracellular signal transduction
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)