LIMS2 Chromosome 2
LIM zinc finger domain containing 2
Upload your DNA to see your personal genotypes for variants in LIMS2.
What This Gene Does
This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
LIMS zinc finger family
Locus Type
gene with protein product
Location
2q14.3
Ensembl
ENSG00000072163
Associated Conditions (1)
Autosomal recessive limb-girdle muscular dystrophy type 2W
Key Variants
RS1432539290
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
Health Risk
RS149101001
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
Health Risk
RS968524490
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
Health Risk
RS1416116174
Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
Health Risk
RS752012358
Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
Health Risk
RS869025562
Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1432539290 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W |
| RS149101001 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W |
| RS968524490 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W |
| RS1416116174 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W |
| RS752012358 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W |
| RS869025562 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W |