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Sequence in raw or FASTA format:

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SGCE sarcoglycan, epsilon [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001099400 Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001099401 Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_003919 Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005250675 PREDICTED: Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005250677 PREDICTED: Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005250679 PREDICTED: Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_006716165 PREDICTED: Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006716166 PREDICTED: Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_006716167 PREDICTED: Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

Related Services

Gene Symbol SGCE
Entrez Gene ID 8910
Full Name sarcoglycan, epsilon
Synonyms DYT11, ESG
General protein information
Preferred Names
epsilon-sarcoglycan
Names
epsilon-sarcoglycan
epsilon-SG
dystonia 11, myoclonic
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

7

7q21.3

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].
Disorder

MIM: 604149

Dystonia-11, myoclonic, 159900 (3)

mRNA Protein Product Sequence Price Select
NM_001099400, 150378534 NP_001092870, 150378535 epsilon-sarcoglycan isoform 3 ORF Sequence $550.00
NM_001099401, 150378453 NP_001092871, 150378454 epsilon-sarcoglycan isoform 1 ORF Sequence $550.00
NM_003919, 150378491 NP_003910, 10835047 epsilon-sarcoglycan isoform 2 ORF Sequence $550.00
XM_005250675, 578814713 XP_005250732, 530386590 epsilon-sarcoglycan isoform X1 ORF Sequence $550.00
XM_005250677, 578814715 XP_005250734, 530386594 epsilon-sarcoglycan isoform X3 ORF Sequence $550.00
XM_005250679, 578814720 XP_005250736, 530386598 epsilon-sarcoglycan isoform X5 ORF Sequence $400.00
XM_006716165, 578814716 XP_006716228, 578814717 epsilon-sarcoglycan isoform X6 ORF Sequence $550.00
XM_006716166, 578814718 XP_006716229, 578814719 epsilon-sarcoglycan isoform X7 ORF Sequence $400.00
XM_006716167, 578814721 XP_006716230, 578814722 epsilon-sarcoglycan isoform X8 ORF Sequence $400.00
Homo sapiens (human)SGCENP_001092870.1
Pan troglodytes (chimpanzee)SGCEXP_001169205.1
Macaca mulatta (Rhesus monkey)SGCEXP_001096667.1
Canis lupus familiaris (dog)SGCEXP_860806.3
Bos taurus (cattle)SGCENP_001068613.1
Mus musculus (house mouse)SgceNP_001123660.1
Rattus norvegicus (Norway rat)SgceNP_001002023.1
Gallus gallus (chicken)SGCEXP_004939358.1
Danio rerio (zebrafish)sgceNP_001002594.1
Xenopus (Silurana) tropicalis (western clawed frog)sgceXP_002940681.2
Process
IDNameEvidence
GO:0007160cell-matrix adhesionTAS
GO:0007517muscle organ developmentTAS
Component
IDNameEvidence
GO:0005794Golgi apparatusISS
GO:0005856cytoskeletonIEA
GO:0005886plasma membraneISS
GO:0005887integral component of plasma membraneTAS
GO:0016010dystrophin-associated glycoprotein complexIDA
GO:0016012sarcoglycan complexIEA
GO:0030425dendriteIEA
GO:0032590dendrite membraneISS
GO:0042383sarcolemmaIEA
Function
IDNameEvidence
GO:0005509calcium ion bindingIEA
GeneCards SGCE
UniProt E9PEH6, C9JR67, O43556
Vega OTTHUMG00000022828
MIM 604149
Ensembl ENSG00000127990
HGNC 10808
HPRD 04999

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SGCE gene?

The SGCE gene provides instructions for making a protein called epsilon (ε)-sarcoglycan, whose function is unknown. The ε-sarcoglycan protein is found within the cell membranes of the lungs, liver, kidneys, and spleen, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. Researchers suspect that in the brain the ε-sarcoglycan protein plays a role in the functioning of synapses, which are the connections between neurons where cell-to-cell communication occurs.

People inherit one copy of most genes from their mother and one copy from their father. Both copies are typically active, or "turned on," in cells. The SGCE gene, however, is active only when it is inherited from a person's father. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting.

Interactant

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