Entity Details

Primary name SGCE
Entity type gene
Source Source Link

Details

PrimaryID8910
RefseqGeneNG_008893
SymbolSGCE
Namesarcoglycan epsilon
Chromosome7
Location7q21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-01-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSGCE_HUMAN

GO terms

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GOName
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007160 cell-matrix adhesion
GO:0007517 muscle organ development
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016012 sarcoglycan complex
GO:0032590 dendrite membrane
GO:0042383 sarcolemma

Diseases

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Disease IDSourceNameDescription
159900 OMIMDystonia 11, myoclonic (DYT11)A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
SGCEARIH2BioGRID, HPRD, IntAct16169070 details
SGCECWC15BioGRID, IntAct21988832 details
SGCEPPP1CCBioGRID, IntAct21382349 details
SGCECBLBioGRID32714745 details
SGCETMEM30BBioGRID, IntAct28514442 details
SGCEFCGRTBioGRID, IntAct28514442 details
SGCEDAG1IntAct30914516 details
SGCEHNRNPH1BioGRID26760575 details