Sgce
Gene Detail

Symbol Name ID

Sgce sarcoglycan, epsilon MGI:1329042

Synonyms

e-SG

Feature Type

protein coding gene

Genetic Map

Chromosome 6

1.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)

Sequence Map

Chr6:4674350-4747204 bp, - strand From VEGA annotation of GRCm38   72855 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:31205  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: sarcoglycan, alpha/epsilon types
Gene Tree: Sgce

Human homologs

Human Homolog		SGCE, sarcoglycan, epsilon
NCBI Gene ID		8910
neXtProt AC		NX_O43556
Human Synonyms		DYT11, ESG
Human Chr (Location)		7q21.3; chr7:94214536-94285521 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SGCE

Alleles and phenotypes

All alleles(58) : Targeted(3) Gene trapped(55)
 

Mice homozygous or heterozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance.

 
Human Diseases Modeled Using Mouse Sgce (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Component	cytoplasm, cytoskeleton, ...
Function	calcium ion binding

External Resources: FuncBase

Expression

Literature Summary: (8 records)
Data Summary: Results (17)    Tissues (13)   
Theiler Stages: 14, 18, 20, 21, 28

Assay Type	Results
RNA in situ	4
Northern blot	6
RT-PCR	7

cDNA source data(43)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(46) Genomic(1) cDNA(43) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000023184 (Evidence)
Ensembl Gene Model	ENSMUSG00000004631 (Evidence)
Entrez Gene	20392 (Evidence)
UniGene	8739
DFCI	TC1576761, TC1594672, TC1707528, TC1722654
DoTS	DT.101190106, DT.101261409, DT.101388478, DT.103544987, DT.110488468, DT.110488478, DT.91340954
NIA Mouse Gene Index	U027014
Consensus CDS Project	CCDS51715.1, CCDS51716.1, CCDS51717.1, CCDS51718.1
International Mouse Knockout Project Status	Sgce

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023184	VEGA Gene Model | MGI Sequence Detail	72855	C57BL/6J
transcript	OTTMUST00000056087	VEGA | MGI Sequence Detail	1696	Not Applicable
polypeptide	OTTMUSP00000026910	VEGA | MGI Sequence Detail	437	Not Applicable

All sequences(85) RefSeq(10) UniProt(11)

Polymorphisms

All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs(42 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006644	Dystroglycan-type cadherin-like
InterPro	IPR008908	Sarcoglycan alphaepsilon
Protein Ontology	PR:000014784	epsilon-sarcoglycan

References

(Earliest) J:51753 Ettinger AJ, et al., epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D [published erratum appears in J Biol Chem 1998 Jul 31;273(31):19922]. J Biol Chem. 1997 Dec 19;272(51):32534-8
(Latest) J:192195 Himes KP, et al., Generalized disruption of inherited genomic imprints leads to wide-ranging placental defects and dysregulated fetal growth. Dev Biol. 2013 Jan 1;373(1):72-82
All references(45)