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FLASH GENE

Symbol

SGCE

contributors: mct - updated : 23-05-2011

HGNC name	sarcoglycan, epsilon
HGNC id	10808

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL7Q21 chromosome 7q21 interstitial deletion DYT11 dystonia 11, myoclonic
Location	7q21.3      Physical location : 94.214.535 - 94.285.521
Synonym name	epsilon-SG
Synonym symbol(s)	ESG

DNA

TYPE	functioning gene
STRUCTURE	70.99 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003919 11 - 1709 NP_003910 - 437 - 2004 15193417 NM_001099400 11 - 1717 NP_001092870 - 451 - 2004 15193417 NM_001099401 12 - 1784 NP_001092871 - 462 - 2004 15193417 SGCE cerebral isoform - - - - - notably high expression in the cerebellum, namely in the Purkinje cells and neurons of the dentate nucleus 2011 21157498 major brain-specific isoform is differentially expressed in the human brain

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive intestine       highly Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	broadly, in muscle and non muscle cells

IMPRINTING	maternally
text	maternally imprinted (paternally expressed)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a transmembrane domain
	one signal sequence
	a large extracellular domain containing four conserved cysteine residues
	a short cytoplasmic domain
	potential glycosylation site

conjugated

GlycoP

HOMOLOGY

intraspecies

homolog to alpha sarcoglycan,highly

Homologene

FAMILY

sarcoglycan alpha/epsilon family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	sarcolemma, type 2 membrane protein

basic FUNCTION

forming a link between actin cytoskeleton and the extra-cellular matrix

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

associating with other sarcoglycans and sarcospan in a stoichiometrically equal complex,stabilizing the link between dystroglycan and dystrophin/utrophin, complexed with beta delta sarcoglycan

INTERACTION

DNA

RNA

small molecule

protein

utrophin, DP116, SGCB, SGCD in the Schwann cell membrane

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DYT11 , DEL7Q21

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   LOI     maternal chromosome 7 disomy- can cause myoclonus-dystonia

Susceptibility

to obsessive-compulsive disorder, and alcohol dependence

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS