LIM2 Chromosome 19
Lens intrinsic membrane protein 2
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What This Gene Does
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]
Associated Conditions (4)
Cataract 19 multiple types
LIM2-related disorder
Inborn genetic diseases
Cataract
Key Variants
RS142517355
Conflicting classifications of pathogenicity
Cataract 19 multiple types, LIM2-related disorder, Inborn genetic diseases
Health Risk
RS145192236
Conflicting classifications of pathogenicity
Cataract 19 multiple types, Cataract 19 multiple types
Health Risk
RS147625714
Conflicting classifications of pathogenicity
Cataract 19 multiple types, Cataract 19 multiple types
Health Risk
RS574581011
Conflicting classifications of pathogenicity
Cataract 19 multiple types, Inborn genetic diseases, Cataract 19 multiple types
Health Risk
RS73934370
Conflicting classifications of pathogenicity
Cataract 19 multiple types, Cataract 19 multiple types, Inborn genetic diseases
Health Risk
RS8111243
Conflicting classifications of pathogenicity
Cataract 19 multiple types, Cataract 19 multiple types
Health Risk
RS121913555
Pathogenic
Cataract 19 multiple types, Cataract 19 multiple types
Health Risk
RS869312732
Pathogenic
Cataract 19 multiple types, Cataract 19 multiple types
Health Risk
RS1568480054
Pathogenic/Likely pathogenic
Cataract, Cataract 19 multiple types, LIM2-related disorder
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142517355 | Health Risk | Conflicting classifications of pathogenicity | Cataract 19 multiple types, LIM2-related disorder, Inborn genetic diseases |
| RS145192236 | Health Risk | Conflicting classifications of pathogenicity | Cataract 19 multiple types, Cataract 19 multiple types |
| RS147625714 | Health Risk | Conflicting classifications of pathogenicity | Cataract 19 multiple types, Cataract 19 multiple types |
| RS574581011 | Health Risk | Conflicting classifications of pathogenicity | Cataract 19 multiple types, Inborn genetic diseases, Cataract 19 multiple types |
| RS73934370 | Health Risk | Conflicting classifications of pathogenicity | Cataract 19 multiple types, Cataract 19 multiple types, Inborn genetic diseases |
| RS8111243 | Health Risk | Conflicting classifications of pathogenicity | Cataract 19 multiple types, Cataract 19 multiple types |
| RS121913555 | Health Risk | Pathogenic | Cataract 19 multiple types, Cataract 19 multiple types |
| RS869312732 | Health Risk | Pathogenic | Cataract 19 multiple types, Cataract 19 multiple types |
| RS1568480054 | Health Risk | Pathogenic/Likely pathogenic | Cataract, Cataract 19 multiple types, LIM2-related disorder |