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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 nameGene Name - the full gene name approved by the HGNC.
Sarcoglycan epsilon
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SGCE
SynonymsGene synonyms aliases
DYT11, ESG, epsilon-SG
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.3
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0005794 Component Golgi apparatus ISS
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane ISS
GO:0005887 Component Integral component of plasma membrane TAS 9475163
GO:0007160 Process Cell-matrix adhesion TAS 9405466
Other IDsOther 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
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
Sequence
Sequence length 437
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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 		 
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Myoclonic dystonia Myoclonic dystonia rs121908489, rs121908490, rs863223283, rs121908491, rs863223284, rs1584531843, rs121908492, rs863223285, rs398123812, rs786205860, rs794727794, rs886039595, rs1057517990, rs1057519246, rs1189469219, rs1064794321, rs1064797339, rs1554352819, rs1554355416, rs1554353106, rs1554345052, rs1554352952, rs1554358727, rs1554352906, rs1554345077, rs1554345162, rs1554345170, rs1562806242, rs1562805960, rs1562812370, rs1562853011, rs1562811414, rs1584637958, rs1584663425, rs1584663290, rs1584546131, rs372686312, rs1584546494, rs1584692239, rs1584700882, rs1584546238, rs1799563986 17296918, 16227522, 18175340, 11022010, 12325078, 19066193, 29607243, 23677909, 15258227, 21796726, 11528394, 19117362, 18362280, 15079037, 22626943, 22259621, 18205193, 15728306, 17853490, 12402271, 18355305
Unknown
Disease name Disease term dbSNP ID References
Agoraphobia Agoraphobia
Anxiety disorder Anxiety
Mental depression Mental Depression, Depressive disorder rs587778876, rs587778877 22438980
Myoclonus-dystonia syndrome Myoclonus-dystonia syndrome

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