SGCE (sarcoglycan epsilon)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8910
Gene name Gene Name - the full gene name approved by the HGNC.
Sarcoglycan epsilon
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SGCE
Synonyms (NCBI Gene) Gene synonyms aliases
DYT11, ESG, epsilon-SG
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT2621545 hsa-miR-4803 CLIP-seq
MIRT2621546 hsa-miR-586 CLIP-seq
MIRT2621547 hsa-miR-7 CLIP-seq
MIRT2621545 hsa-miR-4803 CLIP-seq
MIRT2621546 hsa-miR-586 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005737 Component Cytoplasm IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604149 10808 ENSG00000127990
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43556
Protein name Epsilon-sarcoglycan (Epsilon-SG)
Protein function 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05510 Sarcoglycan_2 32 → 419 Sarcoglycan alpha/epsilon Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myoclonic Dystonia Myoclonic dystonia 11 rs1584700882, rs121908492, rs1554355416, rs1562812370, rs1584546238, rs863223285, rs1554353106, rs1562853011, rs1799563986, rs398123812, rs1554345052, rs1562811414, rs794727794, rs1554352952, rs1584637958
View all (26 more)		 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (43)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholism Associate 23365103
Anxiety Associate 23365103
Attention Deficit Disorder with Hyperactivity Associate 32115676
Autism Spectrum Disorder Associate 35773312
Blood Platelet Disorders Associate 35263928
Brain Diseases Associate 36445406
Breast Neoplasms Associate 35441810, 37838174
Carcinogenesis Associate 26769141
Carcinoma Hepatocellular Associate 21767414
Cerebral Palsy Associate 32775037