Gene: LEMD2

Alternate names for this Gene: CTRCT42|LEM2|NET25|dJ482C21.1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.31

Description of this Gene: LEM domain nuclear envelope protein 2

Type of Gene: protein-coding

rs878852983 in LEMD2 gene and CATARACT 46, JUVENILE-ONSET PMID 26788539 2016 Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

rs4711350 in LEMD2 gene and Schizophrenia PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.