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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 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SGCE
Protein SuperFamily: sarcoglycan, alpha/epsilon types
Gene Tree: Sgce

Human
homologs
SGCE, sarcoglycan, epsilon
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 8910
neXtProt AC: NX_O43556

Human Synonyms: DYT11, ESG

Human Chr (Location): 7q21.3; chr7:94585224-94656209 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SGCE

Mutations,
alleles, and
phenotypes
All mutations/alleles(59) : Gene trapped(55) Targeted(3) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous or heterozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance.
 
Human Diseases Modeled in Mice Using Sgce (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Sgce interacts with 104 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Component cell projection, cytoplasm, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (17)    Tissues (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 4
Northern blot 6
RT-PCR 7
cDNA source data(43)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sgce ; ZFIN sgce    NEW 
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, TC1707528, TC1594672, TC1722654
DoTS DT.101388478, DT.101261409, DT.101190106, DT.103544987, DT.110488468, DT.91340954, DT.110488478
NIA Mouse Gene Index U027014
Consensus CDS Project CCDS51715.1, CCDS51716.1, CCDS51717.1, CCDS51718.1
International Mouse Phenotyping Consortium Status Sgce
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023184 VEGA Gene Model | MGI Sequence Detail 72855 C57BL/6J ±  kb
transcript OTTMUST00000056087 VEGA | MGI Sequence Detail 1696 Not Applicable 
polypeptide OTTMUSP00000026910 VEGA | MGI Sequence Detail 437 Not Applicable 

For the selected sequences
All sequences(101) RefSeq(26) UniProt(11)
Polymorphisms
All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(143 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:207929 Yamaguchi S, et al., Role of Tet1 in erasure of genomic imprinting. Nature. 2013 Dec 19;504(7480):460-4
All references(45)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory