SYNE2 Chromosome 14
Spectrin repeat containing nuclear envelope protein 2
Upload your DNA to see your personal genotypes for variants in SYNE2.
What This Gene Does
The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Spectrin repeat containing nuclear envelope family|KASH domain containing"
Locus Type
gene with protein product
Location
14q23.2
Ensembl
ENSG00000054654
Associated Conditions (5)
Emery-Dreifuss muscular dystrophy 5
autosomal dominant
SYNE2-related disorder
Spastic ataxia
Cerebral palsy
Key Variants
RS1007865427
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1018808319
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1026697162
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1034591406
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS112833938
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS113146258
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS116823334
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1168529666
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS117647282
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
Health Risk
RS118004985
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1211378375
Conflicting classifications of pathogenicity
SYNE2-related disorder, Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Health Risk
RS1323946751
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
All Variants (324)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS774356639 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS774421754 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS775169295 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS776756586 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS778028287 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS778905999 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS780750526 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS781422804 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS781486571 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS794727012 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS80046702 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS8010699 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS886044254 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS886050580 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS886050596 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS886050600 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS971473774 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS1064797188 | Health Risk | Likely pathogenic | — |
| RS2549255659 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS2549416400 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS2550709678 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS786205488 | Health Risk | Likely pathogenic | — |
| RS1323140900 | Health Risk | Pathogenic | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5 |
| RS2153715439 | Health Risk | Pathogenic | Cerebral palsy, Cerebral palsy |