SPEG Chromosome 2
Striated muscle enriched protein kinase
Upload your DNA to see your personal genotypes for variants in SPEG.
What This Gene Does
This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
"I-set domain containing|Myosin light chain kinase family"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000072195
Associated Conditions (6)
Myopathy
centronuclear
5
SPEG-related disorder
Inborn genetic diseases
SPEG-related congenital myopathy
Key Variants
RS1295142218
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 5
Health Risk
RS151167400
Conflicting classifications of pathogenicity
Health Risk
RS181222936
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 5
Health Risk
RS183551699
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199582765
Conflicting classifications of pathogenicity
Myopathy, centronuclear, 5
Health Risk
RS199758082
Conflicting classifications of pathogenicity
Inborn genetic diseases, Myopathy, centronuclear
Health Risk
RS199897861
Conflicting classifications of pathogenicity
Health Risk
RS200066956
Conflicting classifications of pathogenicity
Health Risk
RS200305444
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200598748
Conflicting classifications of pathogenicity
SPEG-related disorder, Myopathy, centronuclear
Health Risk
RS200713879
Conflicting classifications of pathogenicity
Inborn genetic diseases, Myopathy, centronuclear
Health Risk
RS201228075
Conflicting classifications of pathogenicity
Inborn genetic diseases, SPEG-related disorder, Inborn genetic diseases
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370534000 | Health Risk | Likely pathogenic | — |
| RS756056441 | Health Risk | Likely pathogenic | SPEG-related congenital myopathy, SPEG-related congenital myopathy |
| RS763704831 | Health Risk | Likely pathogenic | Myopathy, centronuclear, 5 |
| RS1277011664 | Health Risk | Pathogenic | — |
| RS1322832121 | Health Risk | Pathogenic | — |
| RS1575107759 | Health Risk | Pathogenic | — |
| RS2125288672 | Health Risk | Pathogenic | — |
| RS2125468774 | Health Risk | Pathogenic | — |
| RS2545475168 | Health Risk | Pathogenic | — |
| RS2545827443 | Health Risk | Pathogenic | — |
| RS2545867076 | Health Risk | Pathogenic | SPEG-related disorder, SPEG-related disorder |
| RS2545901248 | Health Risk | Pathogenic | — |
| RS2545940726 | Health Risk | Pathogenic | — |
| RS2545942402 | Health Risk | Pathogenic | — |
| RS2546004155 | Health Risk | Pathogenic | — |
| RS2546008115 | Health Risk | Pathogenic | — |
| RS2546023288 | Health Risk | Pathogenic | — |
| RS587777673 | Health Risk | Pathogenic | Myopathy, centronuclear, 5 |
| RS587777674 | Health Risk | Pathogenic | Myopathy, centronuclear, 5 |
| RS587777675 | Health Risk | Pathogenic | Myopathy, centronuclear, 5 |
| RS752907815 | Health Risk | Pathogenic | — |
| RS759644676 | Health Risk | Pathogenic | Myopathy, centronuclear, 5 |
| RS764429761 | Health Risk | Pathogenic | Myopathy, centronuclear, 5 |
| RS768300296 | Health Risk | Pathogenic | Myopathy, centronuclear, 5 |
| RS771765677 | Health Risk | Pathogenic | — |
| RS1575201712 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, centronuclear, 5 |
| RS587777672 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, centronuclear, 5 |