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Tbio
SGCE
Epsilon-sarcoglycan

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000265735
  • ENSP00000265735
  • ENSG00000127990
  • ENST00000445866
  • ENSP00000398930
  • ENST00000642933
  • ENSP00000496237
  • ENST00000648936
  • ENSP00000497130

Symbol
  • ESG
  • ESG
  • DYT11
  • epsilon-SG
Illumination Graph
Knowledge Table
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


IDG Development Level Summary
Tdark

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: 228.53   (req: < 5)
Gene RIFs: 63   (req: <= 3)
Antibodies: 128   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 228.53   (req: >= 5)
Gene RIFs: 63   (req: > 3)
Antibodies: 128   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
1
0
1.1
61.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.1
61.3
Gene Ontology Terms (11)
Items per page:
10
1 – 8 of 8
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
Protein-Protein Interactions (91)
1 – 10 of 91
TMEM30B
Tbio
Novelty: 0.26735006
p_int: 0.999998772
p_ni: 7.84e-7
p_wrong: 4.44e-7
Data Source: BioPlex
FCGRT
Tchem
Novelty: 0.00105713
p_int: 0.999947105
p_ni: 0.00005285
p_wrong: 4.5e-8
Score: 0.222
Data Source: BioPlex,STRINGDB
CTLA4
Tclin
Novelty: 0.00012781
p_int: 0.999305503
p_ni: 0.000022954
p_wrong: 0.000671542
Data Source: BioPlex
SGCD
Tbio
Novelty: 0.00501907
Score: 0.967
Data Source: STRINGDB
SGCB
Tbio
Novelty: 0.00970061
Score: 0.966
Data Source: STRINGDB
DMD
Tclin
Novelty: 0.00025661
Score: 0.962
Data Source: STRINGDB
DAG1
Tbio
Family: Enzyme
Novelty: 0.00149278
Score: 0.956
Data Source: STRINGDB
SGCZ
Tbio
Novelty: 0.08511312
Score: 0.928
Data Source: STRINGDB
SSPN
Tbio
Novelty: 0.01594611
Score: 0.921
Data Source: STRINGDB
CAV3
Tbio
Novelty: 0.00190092
Score: 0.921
Data Source: STRINGDB
Publication Statistics
PubMed Score  228.53

PubMed score by year
PubTator Score  149.66

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer