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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
Location & Maps
more
  • Genetic Map
    Chromosome 6, 1.81 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    SGCE, sarcoglycan epsilon
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SGCE, sarcoglycan epsilon
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DYT11, ESG
  • Links
    NCBI Gene ID: 8910
    neXtProt AC: NX_O43556

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

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

Human Disease Mouse Models
       Dystonia 11, Myoclonic; DYT11   OMIM: 159900 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
    8 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    59
  • Gene trapped
    55
  • Targeted
    3
  • Transgenic
    1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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 OTTMUSG00000023184 VEGA Gene Model | MGI Sequence Detail 72858 C57BL/6J ±  kb
transcript OTTMUST00000056129 VEGA | MGI Sequence Detail 1776 Not Applicable  
polypeptide OTTMUSP00000073198 VEGA | MGI Sequence Detail 473 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    143 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 46
    Genomic 1
    cDNA 43
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 43
    Developmental Gene Expression 10
    Diseases 2
    Gene Ontology 6
    Phenotypes 8
  • 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

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
06/15/2016
MGI 6.04
The Jackson Laboratory