SGCE Gene
protein-coding GIFtS : 59
GCID: GC07 M094214
sarcoglycan, epsilon (Previous symbol: DYT11 )
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Aliasesfor SGCE gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Sarcoglycan, Epsilon 1 2 Epsilon-SG3 DYT111 2 5 Epsilon-Sarcoglycan1 ESG2 3 Epsilon-SG3 Dystonia 11, Myoclonic2
Export aliases for SGCE gene to outside databases Previous GC identifers: GC07M092749 GC07M093812 GC07M093826 GC07M093859 GC07M094052 GC07M088821
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Summariesfor SGCE gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for SGCE : 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) UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 Function : Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a linkbetween the F-actin cytoskeleton and the extracellular matrix Gene Wiki entry for SGCE
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Genomic Viewsfor SGCE gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SGCE gene promoter: C/EBPbeta Other transcription factors Search SABiosciences Chromatin IP Primers for SGCE Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SGCE
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 7q21.3 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3 SGCE Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07M094214: view genomic region
(about GC identifiers )
Start:
94,214,536 bp from pter
End:
94,285,521 bp from pter
Size:
70,986 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 93,543,689-93,614,670
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Proteinsfor SGCE gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 (See
protein sequence )Recommended Name: Epsilon-sarcoglycan Size : 437 amino acids; 49851 Da
Subcellular location : Cell membrane, sarcolemma; Single-pass membrane protein (Potential). Cytoplasm, cytoskeleton (Bysimilarity)
Sequence caution : Sequence=AAC04368.1; Type=Erroneous initiation;
Secondary accessions : B2R8N2 D6W5Q8 E9PF60 Q6L8P0 Q75MH8 Q8NFG8 Q8WW28Alternative splicing : 2 isoforms : O43556-1 O43556-3 (Brain-specific)Explore the universe of human proteins at neXtProt for SGCE: NX_O43556 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O43556 SGCE Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (3 alternative transcripts):
NP_001092870.1 NP_001092871.1 NP_003910.1 ENSEMBL proteins: ENSP00000431080 ENSP00000265735 ENSP00000398930 ENSP00000394061 ENSP00000388734 ENSP00000397536 ENSP00000405313 ENSP00000398344 ENSP00000391892 Human Recombinant Protein Products: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
SGCE for ontologies About GeneDecksing SGCE Antibody Products: Assay Products for SGCE:
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Protein
Domains / Familiesfor SGCE gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SGCE for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry O43556 ProtoNet protein and cluster: O43556
2 Blocks protein families : IPB006644 Dystroglycan-type cadherin-like domain IPB008908 Sarcoglycan alphaepsilon UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 Similarity : Belongs to the sarcoglycan alpha/epsilon family
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Functionfor SGCE gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 Function : Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a linkbetween the F-actin cytoskeleton and the extracellular matrix
Genatlas biochemistry entry for SGCE : 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 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SGCE (see all 9 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SGCE (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): SGCE (NM_003919 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SGCE Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SGCE
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005509 calcium ion binding
IEA --
SGCE for ontologies About GeneDecksing Animal Models: Mouse knock-out Sgce tm1Ygl for SGCE 6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Sgce) :
SGCE for phenotypes About GeneDecksing
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Pathways & Interactionsfor SGCE gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SGCE STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/34 Interacting proteins for SGCE (O43556 2 , 3 ENSP00000398930 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 34 )About this table Gene Ontology (GO): 2 biological process terms (GO ID links to tree view) : About this table
SGCE for ontologies About GeneDecksing
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Drugs & Compoundsfor SGCE gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
SGCE for compounds About GeneDecksing Browse Tocris compounds for SGCE 1 Novoseek chemical compound relationship for SGCE gene About this table
Search CenterWatch for drugs/clinical trials and news about SGCE
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Transcriptsfor SGCE gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for SGCE gene (3 alternative transcripts): NM_001099400.1 NM_001099401.1 NM_003919.2 Unigene Cluster for SGCE:
Sarcoglycan, epsilon Hs.371199 [show with all ESTs ] Unigene Representative Sequence: AK295021 11 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000522045 ENST00000265735 (uc003unm.2 uc003unl.2 uc003unn.2 uc011kic.1 )ENST00000445866 ENST00000437425 ENST00000447873 ENST00000428696 ENST00000472326 ENST00000415788 (uc011kid.1 ) ENST00000462731 ENST00000450385 ENST00000425444 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SGCE (see all 9 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SGCE (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): SGCE (NM_003919 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SGCE Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SGCE
Additional cDNA sequence: AB117974.1 AF031920.1 AF036364.1 AF516515.1 AJ000534.1 AK295021.1 AK298220.1 AK313438.1 AY359042.1 BC021709.2
13 DOTS entries : DT.100786625 DT.452904
DT.91746569 DT.100786623 DT.100786620 DT.40121592 DT.100762448 DT.95173187 DT.91681096 DT.95173186 DT.99950015 DT.40121591 DT.92034733 24/157 AceView cDNA sequences (see all 157 ):
AI692544 AA424550 BQ879635 BQ717921 AA424641 AA232758 CR596310 BG055475 BX393441 AB117974 AI344582 BM083297 BM981628 Z45071 BM128390 CR606329 AI374598 BE220963 AJ000534 AL547670 AI648380 AL702273 BQ932247 CD722975 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SGCE (see all 9 ) About this scheme 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 :           -   -   -   -                                    
ECgene alternative splicing isoforms for SGCE
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Expression for SGCE gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section SGCE expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTGGCAGTAT
About this image SGCE expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See SGCE Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SGCE SOURCE GeneReport for Unigene cluster: Hs.371199 UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 Tissue specificity : Ubiquitous SABiosciences Expression via Pathway-Focused PCR Array including SGCE : Extracellular Matrix & Adhesion Molecules in human mouse rat
Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SGCEBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SGCE QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SGCE QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SGCE In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE
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Orthologsfor SGCE gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for SGCE gene from 4/14 species (see all 14 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
SGCE1
sarcoglycan, epsilon
84.56(n) 94.68(a)
 
420567 XM_003640683.1 XP_003640731.1
lizard (Anolis carolinensis)
Reptilia
SGCE6
--
82(a)
1 ↔ 1
6(22279147-22298691)
zebrafish (Danio rerio)
Actinopterygii
Dr.27202
Transcribed sequence with weak similarity to protein more
74.21(n)
 
57050708
fruit fly (Drosophila melanogaster)
Insecta
Scgalpha6
Sarcoglycan alpha
19(a)
1 → many
2L(8303429-8305376)
ENSEMBL Gene Tree for SGCE (if available)TreeFam Gene Tree for SGCE (if available)
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Paralogsfor SGCE gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SGCE gene SGCA 2 1 SIMAP similar gene for SGCE using alignment to 7 protein entries: SGCE_HUMAN (see all proteins ):SGCA
SGCE for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for SGCE PGOHUM00000240376
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Genomic Variantsfor SGCE gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 7 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More