LIM2 gene

lens intrinsic membrane protein 2

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

From NCBI Gene:

This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

From UniProt:

Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis.

From NCBI Gene:

  • Cataract 19, multiple types

From UniProt:

Cataract, multiple types 19 (CTRCT19): 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:615277]

Cytogenetic Location: 19q13.4, which is the long (q) arm of chromosome 19 at position 13.4

Molecular Location: base pairs 51,379,909 to 51,387,956 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.4, which is the long (q) arm of chromosome 19 at position 13.4
  • CTRCT19
  • MP17
  • MP19