SUN2 Chromosome 22
Sad1 and UNC84 domain containing 2
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What This Gene Does
SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]
Gene Info
Gene Group
SUN family
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100242
Associated Conditions (1)
Emery-Dreifuss muscular dystrophy
Key Variants
RS1435451030
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS763323157
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS777319339
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS990153882
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1435451030 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS763323157 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS777319339 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS990153882 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |