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 ge... See more...

Aliases for SGCE Gene

Aliases for SGCE Gene

  • Sarcoglycan Epsilon 2 3 5
  • Epsilon-Sarcoglycan 3 4
  • Epsilon-SG 3 4
  • ESG 3 4
  • Dystonia 11, Myoclonic 3
  • DYT11 3
  • SGCE 5

External Ids for SGCE Gene

Previous HGNC Symbols for SGCE Gene

  • DYT11

Previous GeneCards Identifiers for SGCE Gene

  • GC07M092749
  • GC07M093812
  • GC07M093826
  • GC07M093859
  • GC07M094052
  • GC07M094214
  • GC07M088821

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. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]

GeneCards Summary for SGCE Gene

SGCE (Sarcoglycan Epsilon) is a Protein Coding gene. Diseases associated with SGCE include Dystonia 11, Myoclonic and Myoclonus. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is SGCA.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SGCE Gene

Genomics for SGCE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SGCE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J094648 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.7 2730 10.9 RNF2 HNRNPL GATAD2A ZBTB33 PRDM10 ZNF629 TFE3 KDM1A CTCF POLR2A PEG10 SGCE CASD1 PPP1R9A HSALNG0059649
GH07J094630 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 26.8 +23.7 23737 4.5 GATAD2A RXRB POLR2A CEBPA SOX13 ZBTB44 RFX3 RAD21 TCF7 JUND HSALNG0059649 SGCE PEG10 CASD1
GH07J094619 Enhancer 1.2 Ensembl ENCODE dbSUPER 26.7 +35.6 35558 2.8 GATAD2A NFKBIZ RCOR2 PRDM1 ZNF143 RELA RXRB TCF12 IRF2 IKZF2 SGCE CASD1 PEG10 RNU6-1328P HSALNG0059649 lnc-BET1-4
GH07J094439 Enhancer 0.9 Ensembl ENCODE 21.1 +216.1 216122 2.1 GATAD2A RFX1 SOX13 RFX5 RXRB GABPA CEBPA CEBPB BMI1 FOXA2 RF00017-6436 SGCE PEG10 CASD1 lnc-SGCE-3 COL1A2
GH07J094561 Enhancer 1 Ensembl ENCODE 10.4 +94.3 94260 1.8 GATAD2A ATF7 TFE3 SOX13 NFKBIZ RCOR2 RXRB IRF2 CEBPA KMT2B CASD1 RNU6-1328P PEG10 SGCE LOC105375404 HSALNG0059645
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SGCE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SGCE

Top Transcription factor binding sites by QIAGEN in the SGCE gene promoter:
  • C/EBPbeta

Genomic Locations for SGCE Gene

Genomic Locations for SGCE Gene
chr7:94,524,204-94,656,572
(GRCh38/hg38)
Size:
132,369 bases
Orientation:
Minus strand
chr7:94,214,536-94,285,521
(GRCh37/hg19)
Size:
70,986 bases
Orientation:
Minus strand

Genomic View for SGCE Gene

Genes around SGCE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGCE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGCE Gene

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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD21206.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Brain-specific.

    Alternative splice isoforms for SGCE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGCE Gene

Post-translational modifications for SGCE Gene

No data available for DME Specific Peptides for SGCE Gene

Domains & Families for SGCE Gene

Gene Families for SGCE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SGCE Gene

InterPro:
Blocks:
  • Dystroglycan-type cadherin-like domain
  • Sarcoglycan alphaepsilon
ProtoNet:

Suggested Antigen Peptide Sequences for SGCE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50763, highly similar to Homo sapiens sarcoglycan, epsilon (SGCE), mRNA (B7Z2R4_HUMAN)
  • Epsilon-sarcoglycan (SGCE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43556

UniProtKB/Swiss-Prot:

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

Function for SGCE Gene

Molecular function for SGCE Gene

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.
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

Phenotypes From GWAS Catalog for SGCE Gene

Gene Ontology (GO) - Molecular Function for SGCE Gene

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

Human Phenotype Ontology for SGCE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SGCE Gene

MGI Knock Outs for SGCE:

Animal Model Products

CRISPR Products

miRNA for SGCE Gene

miRTarBase miRNAs that target SGCE

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGCE

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGCE gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
golgi apparatus 4
extracellular 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SGCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus ISS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane ISS --
GO:0005887 integral component of plasma membrane TAS 9475163
genes like me logo Genes that share ontologies with SGCE: view

Pathways & Interactions for SGCE Gene

PathCards logo

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 and SIGNOR curated interactions for SGCE Gene

Drugs & Compounds for SGCE Gene

(1) Additional Compounds for SGCE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SGCE: view

Transcripts for SGCE Gene

mRNA/cDNA for SGCE Gene

12 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
98 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGCE

Clone Products

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

Expression for SGCE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SGCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SGCE Gene

This gene is overexpressed in Uterus (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SGCE Gene



Protein tissue co-expression partners for SGCE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SGCE

SOURCE GeneReport for Unigene cluster for SGCE Gene:

Hs.371199

mRNA Expression by UniProt/SwissProt for SGCE Gene:

O43556-SGCE_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SGCE Gene

  • Nervous system(4.8)
  • Heart(4.5)
  • Liver(4.3)
  • Muscle(2.8)
  • Adrenal gland(2.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SGCE Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • neck
Limb:
  • digit
  • finger
  • hand
  • upper limb
  • wrist
genes like me logo Genes that share expression patterns 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 30 31
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SGCE 30 31
  • 94.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SGCE 30 31
  • 92.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sgce 30
  • 89.51 (n)
Mouse
(Mus musculus)
Mammalia Sgce 30 17 31
  • 89.18 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SGCE 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SGCE 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SGCE 30 31
  • 85.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SGCE 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sgce 30
  • 75.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii sgce 30 31
  • 71.52 (n)
OneToOne
Dr.2720 30
Fruit Fly
(Drosophila melanogaster)
Insecta Scgalpha 31
  • 20 (a)
OneToMany
Species where no ortholog for SGCE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SGCE: view image

Paralogs for SGCE Gene

Paralogs for SGCE Gene

(1) SIMAP similar genes for SGCE Gene using alignment to 7 proteins:

  • SGCE_HUMAN
  • B7Z2R4_HUMAN
  • C9J4J9_HUMAN
  • C9JR67_HUMAN
  • E9PEH6_HUMAN
  • G5E9K6_HUMAN
  • H0YC75_HUMAN

Pseudogenes.org Pseudogenes for SGCE Gene

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

Variants for SGCE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SGCE Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
5775 Pathogenic: Myoclonic dystonia 94,600,708(-) CG/C FRAMESHIFT_VARIANT
639938 Uncertain Significance: Myoclonic dystonia 94,603,451(-) C/T MISSENSE_VARIANT
646440 Uncertain Significance: Myoclonic dystonia 94,623,375(-) G/C MISSENSE_VARIANT
646818 Pathogenic: Myoclonic dystonia 94,623,340(-) TATTA/T FRAMESHIFT_VARIANT
648594 Uncertain Significance: Myoclonic dystonia 94,598,814(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SGCE Gene

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

Variant ID Type Subtype PubMed ID
esv2422248 CNV duplication 17116639
esv3571992 CNV loss 25503493
nsv1023193 CNV gain 25217958

Variation tolerance for SGCE Gene

Residual Variation Intolerance Score: 15.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SGCE Gene

Human Gene Mutation Database (HGMD)
SGCE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGCE

SNP Genotyping and Copy Number Assay Products

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

Disorders for SGCE Gene

MalaCards: The human disease database

(35) MalaCards diseases for SGCE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia 11, myoclonic
  • dyt11
myoclonus
dystonia
  • dystonic disease
movement disease
  • movement disorder
sgce myoclonus-dystonia
  • dyt11
- elite association - COSMIC cancer census association via MalaCards
Search SGCE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SGCE_HUMAN
  • Dystonia 11, myoclonic (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, ECO:0000269 PubMed:21796726}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SGCE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SGCE: view

No data available for Genatlas for SGCE Gene

Publications for SGCE Gene

  1. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. (PMID: 19066193) Ritz K … Tijssen MA (Journal of neurology, neurosurgery, and psychiatry 2009) 3 4 23 41
  2. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (PMID: 18362280) Roze E … Vidailhet M (Neurology 2008) 3 4 23
  3. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (PMID: 18175340) Raymond D … Bressman S (Movement disorders : official journal of the Movement Disorder Society 2008) 3 4 23
  4. The epsilon-sarcoglycan gene in myoclonic syndromes. (PMID: 15728306) Valente EM … Bhatia KP (Neurology 2005) 3 23 41
  5. Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. (PMID: 15368614) de Carvalho Aguiar P … Ozelius LJ (Movement disorders : official journal of the Movement Disorder Society 2004) 3 23 41

Products for SGCE Gene

Sources for SGCE Gene