Version 5.4
Homo sapiens Gene: SGCE
Summary
InnateDB Gene IDBG-27549.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SGCE
Gene Name sarcoglycan, epsilon
Synonyms DYT11; ESG
Species Homo sapiens
Ensembl Gene ENSG00000127990
Encoded Proteins
IDBP-27553
sarcoglycan, epsilon
IDBP-382166
sarcoglycan, epsilon
IDBP-382170
sarcoglycan, epsilon
IDBP-382172
sarcoglycan, epsilon
IDBP-382173
sarcoglycan, epsilon
IDBP-382174
sarcoglycan, epsilon
IDBP-382175
sarcoglycan, epsilon
IDBP-382177
sarcoglycan, epsilon
IDBP-482406
sarcoglycan, epsilon
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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.[provided by RefSeq, Oct 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:94585230-94656209
Strand Reverse strand
Band q21.3
Transcripts
ENST00000265735 ENSP00000265735
ENST00000415788 ENSP00000405313
ENST00000445866 ENSP00000398930
ENST00000437425 ENSP00000394061
ENST00000447873 ENSP00000388734
ENST00000428696 ENSP00000397536
ENST00000450385 ENSP00000398344
ENST00000425444 ENSP00000391892
ENST00000522045 ENSP00000431080
ENST00000472326
ENST00000462731
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0007160 cell-matrix adhesion
GO:0007517 muscle organ development
Cellular Component
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016012 sarcoglycan complex
GO:0016020 membrane
GO:0030425 dendrite
GO:0032590 dendrite membrane
GO:0042383 sarcolemma
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000004631
View Gene Order
ENSBTAG00000021282
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.371199
RefSeq NM_001099400 NM_001099401 NM_001301139 NM_003919 XM_005250679 XM_006716165
HUGO
OMIM
CCDS CCDS47642 CCDS47643 CCDS5637 CCDS75634
HPRD 04999
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca