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Sgce Gene Detail
Summary
  • Symbol
    Sgce
  • Name
    sarcoglycan, epsilon
  • Synonyms
    e-SG
  • Feature Type
    protein coding gene
  • IDs
    MGI:1329042
    NCBI Gene: 20392
  • Gene Overview
    MyGene.info: SGCE
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:4674350-4747204 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 1.81 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    143 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1329042
protein coding gene Chr6:4674350-4747207 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030429
protein coding gene Chr6:1442621-1521613 (-)
A/J MGP_AJ_G0030402
protein coding gene Chr6:1393109-1465758 (-)
AKR/J MGP_AKRJ_G0030329
protein coding gene Chr6:1446565-1523330 (-)
BALB/cJ MGP_BALBcJ_G0030411
protein coding gene Chr6:1394958-1468603 (-)
C3H/HeJ MGP_C3HHeJ_G0030125
protein coding gene Chr6:1426194-1499725 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030866
protein coding gene Chr6:1512637-1586576 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028077
protein coding gene Chr6:1153314-1226093 (-)
CAST/EiJ MGP_CASTEiJ_G0029526
protein coding gene Chr6:1410963-1492147 (-)
CBA/J MGP_CBAJ_G0030103
protein coding gene Chr6:1523939-1606690 (-)
DBA/2J MGP_DBA2J_G0030247
protein coding gene Chr6:1373074-1446882 (-)
FVB/NJ MGP_FVBNJ_G0030201
protein coding gene Chr6:1380426-1453983 (-)
LP/J MGP_LPJ_G0030334
protein coding gene Chr6:1429579-1504541 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030237
protein coding gene Chr6:1628677-1709480 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030896
protein coding gene Chr6:1384710-1460583 (-)
PWK/PhJ MGP_PWKPhJ_G0029241
protein coding gene Chr6:1314117-1388915 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029077
protein coding gene Chr6:1467251-1542033 (-)
WSB/EiJ MGP_WSBEiJ_G0029603
protein coding gene Chr6:1400834-1478253 (-)



Homology
more
  • Human Ortholog
    SGCE, sarcoglycan epsilon
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SGCE, sarcoglycan epsilon
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DYT11, epsilon-SG, ESG
  • Links
    NCBI Gene ID: 8910
    neXtProt AC: NX_O43556
    UniProt: O43556

  • Chr Location
    7q21.3; chr7:94585224-94656209 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Sgce mouse models; 1 with human SGCE associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 3 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous or heterozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 20392 NCBI Gene Model | MGI Sequence Detail 72855 C57BL/6J ±  kb
transcript NM_001130188 RefSeq | MGI Sequence Detail 1819 C57BL/6  
polypeptide O70258 UniProt | EBI | MGI Sequence Detail 437 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    11 Sequences
  • InterPro Domains
    IPR006644 Dystroglycan-type cadherin-like
    IPR030775 Epsilon-sarcoglycan
    IPR008908 Sarcoglycan alpha/epsilon
Molecular
Reagents
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  • All nucleic 48
    Genomic 1
    cDNA 44
    Primer pair 3

    Microarray probesets 3
References
more
  • Summaries
    All 49
    Developmental Gene Expression 11
    Diseases 2
    Gene Ontology 8
    Phenotypes 9
  • 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:251780 Xiao J, et al., Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. Neurobiol Dis. 2017 Feb;98:52-65

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/13/2018
MGI 6.13
The Jackson Laboratory