Identity
HGNC
LOCATION
7q21.3
LOCUSID
ALIAS
DYT11,ESG,epsilon-SG
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: 8910
MIM: 604149
HGNC: 10808
Ensembl: ENSG00000127990
Variants:
dbSNP: 8910
ClinVar: 8910
TCGA: ENSG00000127990
COSMIC: SGCE
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36161439 | 2023 | Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia. | 0 |
| 36204995 | 2023 | Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. | 3 |
| 37838174 | 2023 | SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1. | 1 |
| 36161439 | 2023 | Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia. | 0 |
| 36204995 | 2023 | Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. | 3 |
| 37838174 | 2023 | SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1. | 1 |
| 33588860 | 2021 | Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child. | 0 |
| 33886091 | 2021 | ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene. | 4 |
| 33588860 | 2021 | Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child. | 0 |
| 33886091 | 2021 | ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene. | 4 |
| 32102149 | 2020 | [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants]. | 1 |
| 32927286 | 2020 | First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study. | 0 |
| 33022436 | 2020 | Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome. | 3 |
| 32102149 | 2020 | [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants]. | 1 |
| 32927286 | 2020 | First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study. | 0 |
Citation
Dessen P
SGCE (sarcoglycan epsilon)
Atlas Genet Cytogenet Oncol Haematol. 2010-12-01
Online version: http://atlasgeneticsoncology.org/gene/51788/sgce
