LEMD2 Chromosome 6
LEM domain nuclear envelope protein 2
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What This Gene Does
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]
Gene Info
Gene Group
LEM domain containing
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000161904
Associated Conditions (4)
LEMD2-related disorder
19 conditions
Marbach-Rustad progeroid syndrome
Cataract 46 juvenile-onset
Key Variants
RS111606296
Conflicting classifications of pathogenicity
LEMD2-related disorder, LEMD2-related disorder
Health Risk
RS149584596
Conflicting classifications of pathogenicity
Health Risk
RS1767330976
Conflicting classifications of pathogenicity
19 conditions, Marbach-Rustad progeroid syndrome, 19 conditions
Health Risk
RS878852983
Pathogenic
Cataract 46 juvenile-onset, Cataract 46 juvenile-onset
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111606296 | Health Risk | Conflicting classifications of pathogenicity | LEMD2-related disorder, LEMD2-related disorder |
| RS149584596 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1767330976 | Health Risk | Conflicting classifications of pathogenicity | 19 conditions, Marbach-Rustad progeroid syndrome, 19 conditions |
| RS878852983 | Health Risk | Pathogenic | Cataract 46 juvenile-onset, Cataract 46 juvenile-onset |