Aliases for LEMD2 Gene
External Ids for LEMD2 Gene
Previous GeneCards Identifiers for LEMD2 Gene
This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]
GeneCards Summary for LEMD2 Gene
LEMD2 (LEM Domain Nuclear Envelope Protein 2) is a Protein Coding gene. Diseases associated with LEMD2 include Cataract 46, Juvenile-Onset and Cataract Hutterite Type. Among its related pathways are Nuclear Envelope Reassembly and Cell Cycle, Mitotic. An important paralog of this gene is LEMD3.
UniProtKB/Swiss-Prot Summary for LEMD2 Gene
Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643).
Required for embryonic development and is involved in regulation of several signaling pathways such as MAPK and AKT. Required for myoblast differentiation involving regulation of ERK signaling (By similarity).