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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:4674350-4747180 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 1.81 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1625 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SGCE, sarcoglycan epsilon
  • Synonyms
    DYT11, epsilon-SG, ESG
  • Links
    NCBI Gene ID: 8910
    neXtProt AC: NX_O43556
    UniProt: O43556

  • Chr Location
    7q21.3; chr7:94524204-94656572 (-)  GRCh38
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
less
  • Phenotype Summary
    20 phenotypes from 5 alleles in 6 genetic backgrounds
    7 phenotypes from multigenic genotypes
    15 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.
Mice homozygous or heterozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    753
  • Tissues
    23
  • cDNA Data
    44
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20392 NCBI Gene Model | MGI Sequence Detail 72831 C57BL/6J ±  kb
    transcript NM_001130188 RefSeq | MGI Sequence Detail 1716 ZRU/MplStud  
    polypeptide O70258 UniProt | EBI | MGI Sequence Detail 437 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 51
      Genomic 1
      cDNA 44
      Primer pair 6

      Microarray probesets 3
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 13
      Diseases 2
      Gene Ontology 7
      Phenotypes 15
    • 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:353360 Cesari E, et al., Differential expression of paralog RNA binding proteins establishes a dynamic splicing program required for normal cerebral cortex development. Nucleic Acids Res. 2024 May 8;52(8):4167-4184
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/05/2024
    MGI 6.24     		The Jackson Laboratory