Entrez gene ID | | 3982 |
Official gene symbol | | LIM2 |
Full name | | lens intrinsic membrane protein 2, 19kDa |
Aliases | | ,MP17,MP19, |
Gene summary | | 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. |
Location | | Chromosome: 19 Locus: 19q13.4 |
Gene position | | 51891210 - 51883163 Map Viewer |
Gene orientation | | minus |
Gene size | | 8048 bp |
Gene sequence |
| |
OMIM ID | | 154045 |
|