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SGCE Gene(Protein Coding)

Sarcoglycan Epsilon

GCID:
GC07M094585
GIFtS:
51
Genes Participants
UDN Logo

Aliases for SGCE Gene

Aliases for SGCE Gene

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

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 Dystonia. Gene Ontology (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

Additional gene information for SGCE Gene

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

Genomics for SGCE Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SGCE Gene

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
GH07I094648 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 561.8 +2.4 2367 10.9 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 CBX5 ZNF213 ZNF143 SGCE PEG10 CASD1 PPP1R9A LOC105375404
GH07I094619 Enhancer 1.3 Ensembl ENCODE dbSUPER 26.7 +35.2 35163 2.8 ELF3 BATF ZNF48 RAD21 RARA ZNF335 ZSCAN5C ZNF143 ATF7 RCOR1 SGCE CASD1 PEG10 RNU6-1328P LOC105375404
GH07I094630 Enhancer 1.2 Ensembl ENCODE dbSUPER 26.8 +23.3 23329 4.4 ELF3 SOX13 FOXA2 SAP130 JUN CEBPG ZSCAN9 POLR2A NR2F6 CREM SGCE PEG10 CASD1 LOC105375404
GH07I094942 Enhancer 0.8 ENCODE 40 -286.3 -286318 0.6 FOXA2 ZNF529 ZFP64 ZBTB40 ZNF213 ZNF302 ZNF354C ZNF138 ZNF202 ZNF680 RPS3AP25 CASD1 SGCE LOC105375403 BET1 COL1A2 DYNC1I1 PPP1R9A PIR34756 GC07M095019
GH07I094439 Enhancer 1 Ensembl ENCODE 21.1 +215.7 215709 2 ELF3 FOXA2 BMI1 ZNF48 RFX5 RARA CREM HMG20B SP5 ELF1 SGCE PEG10 CASD1 GC07P094427 GC07P094428 RNU6-1328P GC07P094390
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SGCE on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SGCE Gene

Genomic Locations for SGCE Gene
chr7:94,585,224-94,656,209
(GRCh38/hg38)
Size:
70,986 bases
Orientation:
Minus strand
chr7:94,214,536-94,285,521
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for SGCE Gene

Proteins for SGCE Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for SGCE Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SGCE Gene

Other Protein References for SGCE Gene

ENSEMBL proteins:
REFSEQ proteins:

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 membrane proteins

Protein Domains for SGCE Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SGCE Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Phenotypes From GWAS Catalog for SGCE Gene

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

Clone Products

  • R&D Systems cDNA Clones for SGCE (epsilon-Sarcoglycan)

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , 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
golgi apparatus 5
cytoskeleton 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

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

SuperPathways for SGCE Gene

PathCards logo More details on SuperPathways for SGCE
No Data Available

Gene Ontology (GO) - Biological Process for SGCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003012 muscle system process IBA --
GO:0007160 cell-matrix adhesion TAS 9405466
GO:0007517 muscle organ development TAS 9405466
GO:0061024 membrane organization IBA --
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SGCE Gene

(25) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(157) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SGCE Gene

Sarcoglycan, epsilon:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for SGCE (epsilon-Sarcoglycan)

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for SGCE Gene
mRNA expression by GTEx for SGCE GenemRNA expression by BioGPS 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, PaxDb, and MOPED for SGCE Gene



Protein tissue co-expression partners for SGCE Gene

NURSA nuclear receptor signaling pathways regulating expression of SGCE Gene:

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(4.3)
  • Liver(4.1)
  • Muscle(2.3)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
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 33 34
  • 99.85 (n)
dog
(Canis familiaris)
 Mammalia SGCE 33 34
  • 94.53 (n)
cow
(Bos Taurus)
 Mammalia SGCE 33 34
  • 92.98 (n)
rat
(Rattus norvegicus)
 Mammalia Sgce 33
  • 89.51 (n)
mouse
(Mus musculus)
 Mammalia Sgce 33 16 34
  • 89.18 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SGCE 34
  • 86 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SGCE 34
  • 83 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SGCE 33 34
  • 85.22 (n)
lizard
(Anolis carolinensis)
 Reptilia SGCE 34
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia sgce 33
  • 75.7 (n)
zebrafish
(Danio rerio)
 Actinopterygii sgce 33 34
  • 71.52 (n)
Dr.2720 33
fruit fly
(Drosophila melanogaster)
 Insecta Scgalpha 34
  • 20 (a)
 OneToMany
Species where no ortholog for SGCE was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs10247562 benign, Myoclonic dystonia 94,597,964(-) T/A/G coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs112954947 likely-benign, Myoclonic dystonia 94,585,327(-) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs11548285 uncertain-significance, Myoclonic dystonia 94,628,302(-) C/T coding_sequence_variant, missense_variant
rs116105264 benign, not specified, Myoclonic dystonia 94,603,346(-) T/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121908489 pathogenic, Myoclonic dystonia 94,628,303(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant

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

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

Disorders for SGCE Gene

MalaCards: The human disease database

(14) MalaCards diseases for SGCE Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia 11, myoclonic
  • dyt11
dystonia
  • dystonic disease
myoclonus
movement disease
  • abnormality of movement
obsessive-compulsive disorder
  • ocd
- 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
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 22 44 58
  2. 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 22 58
  3. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (PMID: 18362280) Roze E … Vidailhet M (Neurology 2008) 3 4 22 58
  4. The epsilon-sarcoglycan gene in myoclonic syndromes. (PMID: 15728306) Valente EM … Bhatia KP (Neurology 2005) 3 22 44 58
  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 22 44 58

Products for SGCE Gene

Sources for SGCE Gene

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