LIM2 Gene - Lens Intrinsic Membrane Protein 2
A key structural component of lens fiber cell junctions, associated with congenital cataracts.
Gene Information Card
| Symbol | LIM2 |
|---|---|
| Full Name | Lens Intrinsic Membrane Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 3982 ncbi.nlm.nih.gov/gene/3982 |
| Ensembl ID | ENSG00000105370 |
| UniProt ID | P55344 |
| OMIM ID | 154045 |
| HGNC ID | 6609 |
| Aliases | MP19, MP17, LIM-2 |
Description
LIM2 encodes a lens-specific membrane protein, MP19, which is a component of the lens fiber cell junctions. It is essential for maintaining lens transparency and structural integrity. Mutations in LIM2 are associated with autosomal dominant and recessive congenital cataracts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cataract 19 (CTRCT19) | Missense mutations (e.g., p.Gly102Glu) disrupt protein folding and junction formation, leading to lens opacity. | ClinVar, OMIM |
| Cataract 19, recessive (CTRCT19R) | Nonsense or frameshift mutations cause loss of function, impairing lens fiber cell adhesion. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High (nTPM not available in GTEx) | Tissue-specific |
| Eye | High | Tissue-specific |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Low | Non-lens cell line |
| HLE-B3 (human lens epithelial) | High | Lens-derived cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.305G>A (p.Gly102Glu) | Missense | Rare | Dominant cataract; disrupts protein structure |
| c.233C>T (p.Thr78Ile) | Missense | Rare | Recessive cataract; reduced protein stability |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; recessive cataract |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent MP19, causing recessive cataracts.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly102Glu) produce a defective protein that interferes with wild-type function, causing dominant cataracts.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • bicellular tight junction (GO:0005923) |
| • structural constituent of eye lens (GO:0005212) | • lens development in camera-type eye (GO:0002088) |
Pathways
• Lens fiber cell junction assembly
• Cell-cell adhesion
Protein Summary
LIM2 encodes MP19, a 19-kDa transmembrane protein localized to lens fiber cell junctions. It contains four transmembrane domains and is involved in cell-cell adhesion and maintenance of lens transparency. The protein is highly expressed in the lens and is critical for proper lens development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIM2 Knockout HEK293 Cell Line | EDJ-KQ5122 | Human | 3982 | Details Get a Quote |
| LIM2 Knockout HeLa Cell Line | EDJ-KQ53795 | Human | 3982 | Details Get a Quote |
| LIM2 Knockout A-549 Cell Line | EDJ-KQ62273 | Human | 3982 | Details Get a Quote |
| LIM2 Knockout HCT 116 Cell Line | EDJ-KQ70757 | Human | 3982 | Details Get a Quote |
