LEMD2 gene

LEM domain containing 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Cataract Hutterite type

From UniProt:

Cataract 46, juvenile-onset (CTRCT46): A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. [MIM:212500]

Cytogenetic Location: 6p21.31, which is the short (p) arm of chromosome 6 at position 21.31

Molecular Location: base pairs 33,771,213 to 33,794,274 on chromosome 6 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 6p21.31, which is the short (p) arm of chromosome 6 at position 21.31
  • CTRCT42
  • dJ482C21.1
  • LEM2
  • NET25