Protein Summary
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
- ENST00000265735
- ENSP00000265735
- ENSG00000127990
- ENST00000445866
- ENSP00000398930
- ENST00000642933
- ENSP00000496237
- ENST00000648936
- ENSP00000497130
- ESG
- ESG
- DYT11
- epsilon-SG
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
PubMedID | 0.97 | ||
kinase perturbation | 0.95 | ||
histone modification site profile | 0.84 | ||
gene perturbation | 0.79 | ||
cell type or tissue | 0.78 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 234.11 (req: < 5)
Gene RIFs: 63 (req: <= 3)
Antibodies: 128 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 234.11 (req: >= 5)
Gene RIFs: 63 (req: > 3)
Antibodies: 128 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 3
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (91)
TMEM30B
Novelty: 0.26735006
p_int: 0.999998772
p_ni: 7.84e-7
p_wrong: 4.44e-7
Data Source: BioPlex
FCGRT
Novelty: 0.00105713
p_int: 0.999947105
p_ni: 0.00005285
p_wrong: 4.5e-8
Score: 0.222
Data Source: BioPlex,STRINGDB
CTLA4
Novelty: 0.00012781
p_int: 0.999305503
p_ni: 0.000022954
p_wrong: 0.000671542
Data Source: BioPlex
Nearest Tclin Targets
Pathways (0)
Viral Interactions (0)
Gene Ontology Terms (11)
Components (8)
Processes (3)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Sequence or structural Similarity (ISS) | UniProtKB | |||
Inferred from Sequence or structural Similarity (ISS) | UniProtKB | |||
Inferred from Sequence or structural Similarity (ISS) | UniProtKB | |||
Traceable Author Statement (TAS) | ProtInc | |||
Traceable Author Statement (TAS) | ProtInc | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-SubCell | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-SubCell | |||
Disease Associations ()
GWAS Traits (2)
Items per page:
1 – 2 of 2
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
insomnia measurement | 1 | 1 | 0 | 1.1 | 35 | ||||
1 | 1 | 0 | 1.1 | 24.5 | |||||
Items per page:
1 – 2 of 2
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
insomnia measurement | 0 | 1.1 | 35 | ||||
0 | 1.1 | 24.5 | |||||
Find similar targets by:
IDG Resources
Orthologs (12)
1 – 5 of 12
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | sarcoglycan epsilon | VGNC:4505 | 463544 | |||||
Macaque | sarcoglycan epsilon | 700104 | ||||||
Mouse | MGI:1329042 | 20392 | ||||||
Rat | RGD:1303201 | 432360 | ||||||
Dog | sarcoglycan epsilon | VGNC:46094 | 475233 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | sarcoglycan epsilon | |||||
Macaque | sarcoglycan epsilon | |||||
Mouse | ||||||
Rat | ||||||
Dog | sarcoglycan epsilon | |||||
Publication Statistics
PubMed Score 234.11
PubMed score by year
PubTator Score 149.66
PubTator score by year
Related Publications
Text Mined References (81)
GeneRif Annotations (63)
Items per page:
0 of 0
PMID | Year | Title |
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