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Aliases for SGCE Gene

Aliases for SGCE Gene

  • Sarcoglycan, Epsilon 2 3
  • Epsilon-SG 3 4
  • DYT11 3 6
  • ESG 3 4
  • Dystonia 11, Myoclonic 3
  • Epsilon-Sarcoglycan 3

External Ids for SGCE Gene

Previous Symbols for SGCE Gene

  • DYT11

Summaries for SGCE Gene

Entrez Gene Summary for SGCE Gene

  • This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

GeneCards Summary for SGCE Gene

SGCE (Sarcoglycan, Epsilon) is a Protein Coding gene. Diseases associated with SGCE include dystonia-11, myoclonic and dystonia. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SGCA.

UniProtKB/Swiss-Prot for SGCE Gene

  • Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix

Gene Wiki entry for SGCE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGCE Gene

Genomics for SGCE Gene

Genomic Location for SGCE Gene

Start:
94,585,224 bp from pter
End:
94,656,209 bp from pter
Size:
70,986 bases
Orientation:
Minus strand

Genomic View for SGCE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SGCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGCE Gene

Regulatory Elements for SGCE Gene

Transcription factor binding sites by QIAGEN in the SGCE gene promoter:

Proteins for SGCE Gene

  • Protein details for SGCE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43556-SGCE_HUMAN
    Recommended name:
    Epsilon-sarcoglycan
    Protein Accession:
    O43556
    Secondary Accessions:
    • B2R8N2
    • D6W5Q8
    • E9PF60
    • G5E9K6
    • Q6L8P0
    • Q75MH8
    • Q8NFG8
    • Q8WW28

    Protein attributes for SGCE Gene

    Size:
    437 amino acids
    Molecular mass:
    49851 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC04368.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD21206.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SGCE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGCE Gene

Proteomics data for SGCE Gene at MOPED

Post-translational modifications for SGCE Gene

No data available for DME Specific Peptides for SGCE Gene

Domains for SGCE Gene

Suggested Antigen Peptide Sequences for SGCE Gene

Graphical View of Domain Structure for InterPro Entry

O43556

UniProtKB/Swiss-Prot:

SGCE_HUMAN
Family:
  • Belongs to the sarcoglycan alpha/epsilon family.:
    • O43556
genes like me logo Genes that share domains with SGCE: view

No data available for Gene Families for SGCE Gene

Function for SGCE Gene

Molecular function for SGCE Gene

GENATLAS Biochemistry: sarcoglycan epsilon,dystrophin associated protein,broadly expressed in muscle and non muscle cells of embryo and adult,associating with other sarcoglycans,stabilizing the link between dystroglycan and dystrophin/utrophin
UniProtKB/Swiss-Prot Function: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix

Gene Ontology (GO) - Molecular Function for SGCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SGCE: view
genes like me logo Genes that share phenotypes with SGCE: view

Animal Models for SGCE Gene

MGI Knock Outs for SGCE:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SGCE Gene

Localization for SGCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGCE Gene

Cell membrane, sarcolemma; Single-pass membrane protein. Cytoplasm, cytoskeleton. Cell projection, dendrite. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGCE Gene COMPARTMENTS Subcellular localization image for SGCE gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SGCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus ISS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane ISS --
GO:0005887 integral component of plasma membrane TAS 9475163
GO:0016010 dystrophin-associated glycoprotein complex IDA 17993586
genes like me logo Genes that share ontologies with SGCE: view

Pathways for SGCE Gene

SuperPathways for SGCE Gene

No Data Available

Gene Ontology (GO) - Biological Process for SGCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion TAS 9405466
GO:0007517 muscle organ development TAS 9405466
genes like me logo Genes that share ontologies with SGCE: view

No data available for Pathways by source for SGCE Gene

Compounds for SGCE Gene

(1) Novoseek inferred chemical compound relationships for SGCE Gene

Compound -log(P) Hits PubMed IDs
peg-10 93.2 6
genes like me logo Genes that share compounds with SGCE: view

Transcripts for SGCE Gene

Unigene Clusters for SGCE Gene

Sarcoglycan, epsilon:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SGCE Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - - - - -
SP2: - - - - - -
SP3: -
SP4: - - - -
SP5: - - - -
SP6: - -
SP7:
SP8: -
SP9: -

Relevant External Links for SGCE Gene

GeneLoc Exon Structure for
SGCE
ECgene alternative splicing isoforms for
SGCE

Expression for SGCE Gene

mRNA expression in normal human tissues for SGCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SGCE Gene

SOURCE GeneReport for Unigene cluster for SGCE Gene Hs.371199

mRNA Expression by UniProt/SwissProt for SGCE Gene

O43556-SGCE_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with SGCE: view

No data available for mRNA differential expression in normal tissues for SGCE Gene

Orthologs for SGCE Gene

This gene was present in the common ancestor of animals.

Orthologs for SGCE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGCE 35
  • 99.85 (n)
  • 100 (a)
SGCE 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGCE 35
  • 92.98 (n)
  • 98.55 (a)
SGCE 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGCE 35
  • 94.53 (n)
  • 98.89 (a)
SGCE 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgce 35
  • 89.18 (n)
  • 95.16 (a)
Sgce 16
Sgce 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGCE 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGCE 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgce 35
  • 89.51 (n)
  • 95.64 (a)
chicken
(Gallus gallus)
Aves SGCE 35
  • 85.22 (n)
  • 95.18 (a)
SGCE 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGCE 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgce 35
  • 75.7 (n)
  • 85.33 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.2720 35
sgce 35
  • 71.52 (n)
  • 84.39 (a)
sgce 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scgalpha 36
  • 20 (a)
OneToMany
Species with no ortholog for SGCE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SGCE Gene

ENSEMBL:
Gene Tree for SGCE (if available)
TreeFam:
Gene Tree for SGCE (if available)

Paralogs for SGCE Gene

Paralogs for SGCE Gene

Selected SIMAP similar genes for SGCE Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SGCE Gene

genes like me logo Genes that share paralogs with SGCE: view

Variants for SGCE Gene

Sequence variations from dbSNP and Humsavar for SGCE Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs883174 -- 94,628,075(-) TTTTG(G/T)GCATG intron-variant
rs883175 -- 94,627,974(-) ATTTG(G/T)GAAAA intron-variant
rs883176 -- 94,627,959(-) ATGAC(C/T)TTAAA intron-variant
rs885573 -- 94,627,339(+) TTTTG(C/T)TGTTG intron-variant
rs1000714 -- 94,593,412(-) TACCA(A/G)TTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SGCE Gene

Variant ID Type Subtype PubMed ID
esv2422248 CNV Duplication 17116639

Relevant External Links for SGCE Gene

HapMap Linkage Disequilibrium report
SGCE
Human Gene Mutation Database (HGMD)
SGCE
Locus Specific Mutation Databases (LSDB)
SGCE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGCE Gene

Disorders for SGCE Gene

(1) OMIM Diseases for SGCE Gene (604149)

UniProtKB/Swiss-Prot

SGCE_HUMAN
  • Dystonia 11 (DYT11) [MIM:159900]: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. {ECO:0000269 PubMed:11528394, ECO:0000269 PubMed:12402271, ECO:0000269 PubMed:15079037, ECO:0000269 PubMed:15258227, ECO:0000269 PubMed:16227522, ECO:0000269 PubMed:17853490, ECO:0000269 PubMed:18175340, ECO:0000269 PubMed:18362280, ECO:0000269 PubMed:19066193}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for SGCE Gene

(5) Novoseek inferred disease relationships for SGCE Gene

Disease -log(P) Hits PubMed IDs
myoclonic dystonia 96.7 10
movement disorders 83.5 10
dystonia primary 78.4 3
obsessive-compulsive disorder 50.1 1
epilepsy 4.43 1

Relevant External Links for SGCE

GeneTests
SGCE
GeneReviews
SGCE
Genetic Association Database (GAD)
SGCE
Human Genome Epidemiology (HuGE) Navigator
SGCE
genes like me logo Genes that share disorders with SGCE: view

Publications for SGCE Gene

  1. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. (PMID: 19066193) Ritz K. … Tijssen M.A. (J. Neurol. Neurosurg. Psych. 2009) 3 4 23 48
  2. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (PMID: 18175340) Raymond D. … Bressman S. (Mov. Disord. 2008) 3 4 23
  3. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (PMID: 18362280) Roze E. … Vidailhet M. (Neurology 2008) 3 4 23
  4. Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. (PMID: 9405466) Ettinger A.J. … Sanes J.R. (J. Biol. Chem. 1997) 2 3 4
  5. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. (PMID: 9475163) McNally E.M. … Kunkel L.M. (FEBS Lett. 1998) 2 3 4

Products for SGCE Gene

Sources for SGCE Gene

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