Identity
HGNC
LOCATION
2q35
LOCUSID
ALIAS
APEG-1,APEG1,BPEG,CNM5,MYLK6,SPEGalpha,SPEGbeta
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10290
MIM: 615950
HGNC: 16901
Ensembl: ENSG00000072195
Variants:
dbSNP: 10290
ClinVar: 10290
TCGA: ENSG00000072195
COSMIC: SPEG
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33794647 | 2021 | Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy. | 6 |
| 34742623 | 2021 | A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation. | 2 |
| 33794647 | 2021 | Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy. | 6 |
| 34742623 | 2021 | A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation. | 2 |
| 31625632 | 2020 | Novel SPEG variant cause centronuclear myopathy in China. | 10 |
| 31790338 | 2020 | Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training. | 10 |
| 32683896 | 2020 | Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation. | 37 |
| 32925938 | 2020 | A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy. | 16 |
| 31625632 | 2020 | Novel SPEG variant cause centronuclear myopathy in China. | 10 |
| 31790338 | 2020 | Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training. | 10 |
| 32683896 | 2020 | Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation. | 37 |
| 32925938 | 2020 | A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy. | 16 |
| 30412272 | 2019 | Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. | 14 |
| 30412272 | 2019 | Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. | 14 |
| 25087613 | 2014 | SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. | 74 |
Citation
Dessen P
SPEG (striated muscle enriched protein kinase)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56308/speg-(striated-muscle-enriched-protein-kinase)
