SGCE (sarcoglycan epsilon)

2010-12-01  

Identity

HGNC
SGCE
LOCATION
7q21.3
LOCUSID
8910
ALIAS
DYT11,ESG,epsilon-SG
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8910
MIM: 604149
HGNC: 10808
Ensembl: ENSG00000127990

Variants:

dbSNP: 8910
ClinVar: 8910
TCGA: ENSG00000127990
COSMIC: SGCE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127990ENST00000415788B7Z2R4
ENSG00000127990ENST00000425444A0A2R8Y6I4
ENSG00000127990ENST00000428696A0A2U3TZN7
ENSG00000127990ENST00000437425E9PEH6
ENSG00000127990ENST00000445866O43556
ENSG00000127990ENST00000447873C9JR67
ENSG00000127990ENST00000450385C9J4J9
ENSG00000127990ENST00000522045H0YC75
ENSG00000127990ENST00000642169A0A2R8YGV6
ENSG00000127990ENST00000642291A0A2R8Y6Y5
ENSG00000127990ENST00000642394A0A2R8Y448
ENSG00000127990ENST00000642441A0A2R8YEY2
ENSG00000127990ENST00000642638A0A2R8Y6I4
ENSG00000127990ENST00000642707A0A2R8YE48
ENSG00000127990ENST00000642933O43556
ENSG00000127990ENST00000643020A0A2R8Y5H7
ENSG00000127990ENST00000643041A0A2R8Y6G8
ENSG00000127990ENST00000643128A0A2R8Y821
ENSG00000127990ENST00000643160A0A2R8YCT2
ENSG00000127990ENST00000643193A0A2R8YH84
ENSG00000127990ENST00000643206A0A2R8YGV6
ENSG00000127990ENST00000643272A0A2R8Y5J3
ENSG00000127990ENST00000643568A0A2R8Y6S4
ENSG00000127990ENST00000643605A0A2R8YH48
ENSG00000127990ENST00000643610A0A2R8Y4X1
ENSG00000127990ENST00000643903A0A2R8YE16
ENSG00000127990ENST00000643991A0A2R8Y5F3
ENSG00000127990ENST00000644087A0A2R8Y6I4
ENSG00000127990ENST00000644116A0A2R8Y652
ENSG00000127990ENST00000644122A0A2R8Y638
ENSG00000127990ENST00000644201A0A2R8Y696
ENSG00000127990ENST00000644375A0A2R8YD68
ENSG00000127990ENST00000644551A0A2R8Y4P8
ENSG00000127990ENST00000644609A0A2R8Y7J1
ENSG00000127990ENST00000644639A0A2R8Y7M6
ENSG00000127990ENST00000644658A0A2R8Y5L4
ENSG00000127990ENST00000644681A0A2R8Y7Q5
ENSG00000127990ENST00000644682A0A2R8Y2R1
ENSG00000127990ENST00000644816A0A2R8Y5X5
ENSG00000127990ENST00000644966A0A2R8YDZ5
ENSG00000127990ENST00000645101A0A2R8YFA5
ENSG00000127990ENST00000645109A0A2R8Y4E3
ENSG00000127990ENST00000645262A0A2R8YE99
ENSG00000127990ENST00000645445A0A2R8Y416
ENSG00000127990ENST00000645535A0A2R8Y7Q5
ENSG00000127990ENST00000645725A0A2R8Y6U6
ENSG00000127990ENST00000645804A0A2R8YDK8
ENSG00000127990ENST00000645920A0A2R8Y6I4
ENSG00000127990ENST00000646098A0A2R8Y6V3
ENSG00000127990ENST00000646119A0A2R8Y5P8
ENSG00000127990ENST00000646137A0A2R8Y621
ENSG00000127990ENST00000646265A0A2R8Y5J6
ENSG00000127990ENST00000646301A0A2R8Y6Z8
ENSG00000127990ENST00000646434A0A2R8Y831
ENSG00000127990ENST00000646466A0A2R8Y6I4
ENSG00000127990ENST00000646489A0A2R8YGQ3
ENSG00000127990ENST00000646559A0A2R8Y6I4
ENSG00000127990ENST00000646600A0A2R8Y6I4
ENSG00000127990ENST00000646682A0A2R8Y6I4
ENSG00000127990ENST00000646879A0A2R8Y628
ENSG00000127990ENST00000646943A0A2R8Y5R7
ENSG00000127990ENST00000647018A0A2R8Y4E3
ENSG00000127990ENST00000647048A0A2R8Y6D4
ENSG00000127990ENST00000647096A0A2R8Y504
ENSG00000127990ENST00000647110A0A2R8Y5Q3
ENSG00000127990ENST00000647334A0A2R8Y5X0
ENSG00000127990ENST00000647351A0A2R8Y5M2
ENSG00000127990ENST00000648936O43556
ENSG00000127990ENST00000648936A0A0S2Z4P5

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
115283942001Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.69
202982002010Confirmed rare copy number variants implicate novel genes in schizophrenia.54
172001512007SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.41
126348612003The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.29
124445702002Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.25
183622802008Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.24
233651032013SGCE mutations cause psychiatric disorders: clinical and genetic characterization.22
123250782002Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.21
181620782008Ethanol increases fetal human neurosphere size and alters adhesion molecule gene expression.21
190661932009Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.21

Citation

Dessen P

SGCE (sarcoglycan epsilon)

Atlas Genet Cytogenet Oncol Haematol. 2010-12-01

Online version: http://atlasgeneticsoncology.org/gene/51788/sgce