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Set Analyses:

VarElect

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SGCE Gene

protein-coding GIFtS: 61
GCID: GC07M094214

Sarcoglycan, Epsilon

(Previous symbol: DYT11)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Sarcoglycan, Epsilon¹ ²		epsilon-SG²
DYT11¹ ² ⁵		epsilon-sarcoglycan²
ESG² ³		Epsilon-SG³
Dystonia 11, Myoclonic²

External Ids:	HGNC: 10808¹	Entrez Gene: 8910²	Ensembl: ENSG00000127990⁷	OMIM: 604149⁵	UniProtKB: O43556³

Export aliases for SGCE gene to outside databases

Previous GC identifers: GC07M092749 GC07M093812 GC07M093826 GC07M093859 GC07M094052 GC07M088821

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 spinocerebellar ataxia type 14. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SGCA.

UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556

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 Wiki entry for 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000007.14 NT_007933.16 NC_018918.2

Regulatory elements:

Regulatory transcription factor binding sites in the SGCE gene promoter:
C/EBPbeta
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SGCE promoter sequence

Search Chromatin IP Primers for SGCE

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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)
SGCE gene location

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:

Chr7-,CRA_TCAG 93,543,689-93,614,670

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 (See protein sequence)

Recommended Name: Epsilon-sarcoglycan

Size: 437 amino acids; 49851 Da

Sequence caution: Sequence=AAC04368.1; Type=Erroneous initiation;

Secondary accessions: B2R8N2 D6W5Q8 E9PF60 Q6L8P0 Q75MH8 Q8NFG8 Q8WW28

Alternative splicing: 2 isoforms: O43556-1 O43556-3 (Brain-specific)

Explore the universe of human proteins at neXtProt for SGCE: NX_O43556

Explore proteomics data for SGCE at MOPED

Post-translational modifications:

Glycosylation² at Asn200

Modification sites at PhosphoSitePlus

See SGCE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

SGCE Human Recombinant Protein Products:

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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for OriGene Protein Over-expression Lysate for SGCE (NM_001099400 NM_001099400 ) OriGene Custom MassSpec OriGene Custom Protein Services for SGCE
	GenScript Custom Purified and Recombinant Proteins Services for SGCE
	Novus Biologicals SGCE Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

SGCE Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Novus Biologicals SGCE Antibodies
	Abcam antibodies for SGCE
	Browse Antibodies at Cloud-Clone Corp.
	ThermoFisher Antibodies for SGCE
	LSBio Antibodies in human, mouse, rat for SGCE

SGCE Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for SGCE
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SGCE
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:

IPR006644 Cadg

IPR008908 Sarcoglycan_2

Graphical View of Domain Structure for InterPro Entry O43556

ProtoNet protein and cluster: O43556

2 Blocks protein domains:

IPB006644 Dystroglycan-type cadherin-like domain

IPB008908 Sarcoglycan alphaepsilon

UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556

Similarity: Belongs to the sarcoglycan alpha/epsilon family

SGCE for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: SGCE_HUMAN, O43556

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 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

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--

SGCE for ontologies About GeneDecksing

Phenotypes:
6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Sgce):

behavior/neurological	cardiovascular system	cellular	immune system	muscle
nervous system

SGCE for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Sgce^tm1Ygl for SGCE

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SGCE

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SGCE

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SGCE

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SGCE

miRNA Products:		Block miRNA regulation of human, mouse, rat SGCE using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SGCE (see all 15):
		hsa-miR-142-5p hsa-miR-495 hsa-miR-520d-5p hsa-miR-429 hsa-miR-7-2* hsa-miR-586 hsa-miR-374c hsa-miR-200c

		SwitchGear 3'UTR luciferase reporter plasmid: SGCE 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SGCE
		Predesigned siRNA for gene silencing in human, mouse, rat SGCE

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SGCE

Clone Products:		OriGene clones in human, mouse for SGCE (see all 17) OriGene ORF clones in mouse, rat for SGCE 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)
		Sino Biological Human cDNA Clone for SGCE
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SGCE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCE

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SGCE
		Browse ESI BIO Cell Lines and PureStem Progenitors for SGCE

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

SGCE_HUMAN, O43556: Cell membrane, sarcolemma; Single-pass membrane protein (Potential). Cytoplasm, cytoskeleton

(By similarity)

Subcellular locations from COMPARTMENTS:

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

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Gene Ontology (GO): Selected cellular component terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005856	cytoskeleton	IEA	--
GO:0005887	integral component of plasma membrane	TAS	9475163
GO:0016010	dystrophin-associated glycoprotein complex	IDA	17993586
GO:0016012	sarcoglycan complex	IEA	--

SGCE for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Pathway & Disease-focused RT² Profiler PCR Array including SGCE:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for SGCE

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for SGCE (O43556^{2, 3} ENSP00000398930⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARIH2	O95376²^,³	MINT-63288 I2D: score=5
TLE1	ENSP00000365682⁴	STRING: ENSP00000365682
CAV3	ENSP00000341940⁴	STRING: ENSP00000341940
DAG1	ENSP00000312435⁴	STRING: ENSP00000312435
PGM5	ENSP00000379678⁴	STRING: ENSP00000379678

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Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007160	cell-matrix adhesion	TAS	9405466
GO:0007517	muscle organ development	TAS	9405466

SGCE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for SGCE

1 Novoseek inferred chemical compound relationship for SGCE gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
peg-10	93.2	7	12620933 (2), 19171046 (1), 18480470 (1), 11318613 (1) (see all 5)

SGCE for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

miRNA Products:		Block miRNA regulation of human, mouse, rat SGCE using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SGCE (see all 15):
		hsa-miR-142-5p hsa-miR-495 hsa-miR-520d-5p hsa-miR-429 hsa-miR-7-2* hsa-miR-586 hsa-miR-374c hsa-miR-200c

		SwitchGear 3'UTR luciferase reporter plasmid: SGCE 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SGCE
		Predesigned siRNA for gene silencing in human, mouse, rat SGCE

Clone Products:		OriGene clones in human, mouse for SGCE (see all 17) OriGene ORF clones in mouse, rat for SGCE 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

Primer Products:		OriGene qPCR primer pairs and template standards for SGCE OriGene qSTAR qPCR primer pairs in human, mouse for SGCE
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SGCE
		QuantiTect SYBR Green Assays in human, mouse, rat SGCE
		QuantiFast Probe-based Assays in human, mouse, rat SGCE

Additional mRNA 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

Selected AceView cDNA sequences (see all 157):

AF031920 BQ574050 BX387203 BQ879635 AI692544 AA424550 BQ717921 AA424641

BG055475 AA232758 CR606329 BM128390 Z45071 BM981628 BX393441 AI344582

AB117974 BM083297 CR596310 AY359042 AA447965 CD723702 NM_003919 CA388947

GeneLoc Exon Structure

Selected 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

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SGCE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTGGCAGTAT

About this image

SGCE expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Neurons
Mature Rod Bipolar Cells Inner Nuclear Layer

Blood (Hematopoietic System)
Mature B-Cells Peripheral Blood

Eye (Sensory Organs)
Mature Rod Bipolar Cells Inner Nuclear Layer

SGCE Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SGCE Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.371199

UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556

Tissue specificity: Ubiquitous

Pathway & Disease-focused RT² Profiler PCR Array including SGCE:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for SGCE OriGene qSTAR qPCR primer pairs in human, mouse for SGCE
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SGCE
		QuantiTect SYBR Green Assays in human, mouse, rat SGCE
		QuantiFast Probe-based Assays in human, mouse, rat SGCE

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for SGCE gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sgce^{1 , 5}	sarcoglycan, epsilon^{1, 5}	89.18(n)¹ 95.16(a)¹		6 (1.81 cM)⁵ 20392¹ NM_001130188.1¹ NP_001123660.1¹ 4674350⁵
chicken (Gallus gallus)	Aves	SGCE¹	sarcoglycan, epsilon	85.22(n) 95.18(a)		420567 XM_004939301.1 XP_004939358.1
lizard (Anolis carolinensis)	Reptilia	SGCE⁶	sarcoglycan, epsilon	79(a)	1 ↔ 1	6(22277574-22308691)
tropical clawed frog (Xenopus tropicalis)	Amphibia	sgce¹	sarcoglycan, epsilon	75.7(n) 85.33(a)		100496492 XM_002940635.2 XP_002940681.2
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	20(a)	1 → many	2L(8303429-8305376)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SGCE gene

SGCA²

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

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_066734⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066734	2	H R	mis⁴		0	--	--	--	--
VAR_066740⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066740	2	S C	mis⁴		0	--	--	--	--
VAR_066733⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066733	2	H P	mis⁴		0	--	--	--	--
VAR_066743⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066743	2	C Y	mis⁴		0	--	--	--	--
VAR_066739⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066739	2	L S	mis⁴		0	--	--	--	--
VAR_066742⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066742	2	W R	mis⁴		0	--	--	--	--
VAR_066738⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066738	2	Y C	mis⁴		0	--	--	--	--
VAR_066741⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066741	2	L P	mis⁴		0	--	--	--	--
VAR_066736⁴	Dystonia 11 (DYT11)⁴	--	see VAR_066736	2	W G	mis⁴		0	--	--	--	--
VAR_026750⁴	Dystonia 11 (DYT11)⁴	--	see VAR_026750	2	L R	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for SGCE (94214536 - 94285521 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for SGCE: About this table

Variant ID	Type	Subtype	PubMed ID
esv2422248	CNV	Duplication	17116639

Human Gene Mutation Database (HGMD): SGCE
Locus Specific Mutation Databases (LSDB): SGCE

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SGCE

DNA2.0 Custom Variant and Variant Library Synthesis for SGCE

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 604149
OMIM disorders: 159900
UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556

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.

Note=The disease is caused by mutations affecting the gene represented in this entry

Selected diseases for SGCE (see all 30):
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dystonia-11, myoclonic spinocerebellar ataxia type 14 myoclonus-dystonia benign hereditary chorea

myoclonus asperger syndrome focal dystonia complex regional pain syndrome

familial dystonia chorea obsessive-compulsive disorder gilles de la tourette syndrome

silver-russell syndrome paine syndrome limb-girdle muscular dystrophy tremor

spinocerebellar ataxia b-cell chronic lymphocytic leukemia alcohol dependence chronic lymphocytic leukemia

4 diseases from the University of Copenhagen DISEASES database for SGCE:

Movement disease Familial dystonia Muscular dystrophy Silver-Russell syndrome

SGCE for disorders About GeneDecksing

5 Novoseek inferred disease relationships for SGCE gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myoclonic dystonia	96.7	10	16227522 (2), 12325078 (2), 12634861 (1), 18581468 (1) (see all 8)
movement disorders	83.5	15	18205193 (1), 18571946 (1), 19506430 (1), 18265016 (1) (see all 10)
dystonia primary	78.4	4	15390016 (2), 17061184 (1)
obsessive-compulsive disorder	50.1	1	15368614 (1)
epilepsy	4.43	1	15389977 (1)

GeneTests: SGCE
GeneReviews: SGCE
Genetic Association Database (GAD): SGCE
Human Genome Epidemiology (HuGE) Navigator: SGCE (8 documents)

Export disorders for SGCE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SGCE gene, integrated from 10 sources (see all 112):
(articles sorted by number of sources associating them with SGCE)

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Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. (PubMed id 19066193)^{1, 2, 4, 9} Ritz K.... Tijssen M.A. (J. Neurol. Neurosurg. Psych. 2009)
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. (PubMed id 9475163)^{1, 2, 3} McNally E.M.... Kunkel L.M. (FEBS Lett. 1998)
Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. (PubMed id 9405466)^{1, 2, 3} Ettinger A.J.... Sanes J.R. (J. Biol. Chem. 1997)
Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. (PubMed id 15390016)^{1, 4, 9} Grundmann K....Riess O. (Mov. Disord. 2004)
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (PubMed id 18362280)^{1, 2, 9} Roze E.... Vidailhet M. (Neurology 2008)
Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. (PubMed id 15368614)^{1, 4, 9} de Carvalho Aguiar P....Ozelius L.J. (Mov. Disord. 2004)
The epsilon-sarcoglycan gene in myoclonic syndromes. (PubMed id 15728306)^{1, 4, 9} Valente E.M....Bhatia K.P. (Neurology 2005)
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. (PubMed id 12402271)^{1, 2, 9} Klein C....Ozelius L.J. (Ann. Neurol. 2002)
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus- dystonia syndrome. (PubMed id 11528394)^{1, 2, 9} Zimprich A.... Gasser T. (Nat. Genet. 2001)
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (PubMed id 18175340)^{1, 2, 9} Raymond D....Bressman S. (Mov. Disord. 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8910	HGNC: 10808	AceView: SGCE	Ensembl:ENSG00000127990	euGenes: HUgn8910
ECgene: SGCE	H-InvDB: SGCE

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SGCE	Pharmacogenomics, SNPs, Pathways
LEIDEN Muscular Dystrophy page for SGCE	Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SGCE[genesymbol]

Intellectual Property for SGCE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SGCE gene:
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