GeneBe

SGCE

protein-coding

sarcoglycan epsilon

Gene summary

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]

Previous symbols:
  • DYT11

MANE transcript

NM_003919.3

Inheritance

AD

ClinVar variants

P:170U:320B:113

Top phenotype

Dystonia 11, myoclonic

gnomAD constraint

pLI —, LoF o/e 0.3

Max pathogenic AF

—

Genomic locus

chr7:94,524,204-94,656,572

External References & Databases

Ensembl (ENSG00000127990)NCBI Gene (8910)OMIM (604149)HGNC:10808GenCCUniProt (O43556)AlphaFoldClinVar (SGCE)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~132.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

myoclonus-dystonia syndromeSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0000903

Submitter: Orphanet

myoclonic dystonia 11STRONG

Inheritance Pattern: AD

Disease ID:MONDO:0008044

Submitter: Genomics England PanelApp

myoclonic dystonia 11DEFINITIVE

Inheritance Pattern: AD

Disease ID:MONDO:0008044

Submitter: Ambry Genetics

myoclonic dystonia 11DEFINITIVE

Inheritance Pattern: AD

Disease ID:MONDO:0008044

Submitter: Illumina

myoclonic dystonia 11STRONG

Inheritance Pattern: AD

Disease ID:MONDO:0008044

Submitter: Labcorp Genetics (formerly Invitae)

myoclonic dystonia 11STRONG

Inheritance Pattern: AD

Disease ID:MONDO:0008044

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Dystonia 11, myoclonicAD

Manifestation: Musculoskeletal; Neurologic

Intervention: Neurologic

Rationale: Treatment with deep-brain stimulation may be beneficial

Refs: 4434166; 11528394; 12325078; 12391346; 11912106; 12634861; 12821748; 12743249; 16240355; 15728306; 17101905; 16534121; 16227522; 18362280; 20301587; 20800530; 21220679; 21267590; 21825253; 22026499Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SGCE variants in ClinVar

7 Conditions Cataloged
Myoclonic dystonia 11Total: 618
not providedTotal: 179
Inborn genetic diseasesTotal: 66
not specifiedTotal: 38
SGCE-related disorderTotal: 28
Myoclonus-dystonia syndromeTotal: 2
Movement disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003919.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
5
clinvar
101
clinvar
1
clinvar
 107
missense
3
clinvar
12
clinvar
307
clinvar
11
clinvar
 333
nonsense
27
clinvar
10
clinvar
4
clinvar
 41
start loss
1
clinvar
 1
frameshift
71
clinvar
17
clinvar
 88
splice donor/acceptor (+/-2bp)
17
clinvar
13
clinvar
3
clinvar
 33
Total118523201121603

Highest pathogenic variant AF is 0.000081290826

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 161 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_003919.3RefSeqNP_003910.111MANE Select
ENST00000648936.2EnsemblENSP00000497130.111MANE Select
NM_001099400.2RefSeqNP_001092870.111Standard
NM_001099401.2RefSeqNP_001092871.112Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • cell-matrix adhesion
  • muscle organ development

Cellular Component

  • Golgi apparatus
  • cytoskeleton
  • plasma membrane
  • integral component of plasma membrane
  • dystrophin-associated glycoprotein complex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000445866
Coding exons
12
Length
70980
Individuals with no LoFs
125707
Homozygous LoFs
0
Heterozygous LoFs
23
Defined
125730
p
0.0000915
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.052072540.8140.00001333014
Missense (PolyPhen)6496.2820.664721165
Synonymous0.09828990.20.9870.00000480873
Loss of Function3.38826.90.2970.00000154302

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American0.0000290.000029rare
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish0.0000460.000046rare
European (Non-Finnish)0.000150.00015rare
South Asian0.0000980.000098rare
Other0.000160.00016rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
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.;
Disease
DISEASE: 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.;

Recessive Scores

pRec
0.231

Intolerance Scores

LoFtool
0.0924
RVIS EVS
-0.54
RVIS percentile EVS
20.54

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.558

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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