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SGCE sarcoglycan epsilon [ Homo sapiens (human) ]

Gene ID: 8910, updated on 5-Mar-2024

Summary

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Official Symbol
SGCEprovided by HGNC
Official Full Name
sarcoglycan epsilonprovided by HGNC
Primary source
HGNC:HGNC:10808
See related
Ensembl:ENSG00000127990 MIM:604149; AllianceGenome:HGNC:10808
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ESG; DYT11; epsilon-SG
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]
Expression
Ubiquitous expression in ovary (RPKM 12.3), adrenal (RPKM 10.3) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See SGCE in Genome Data Viewer
Location:
7q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (94584980..94656133, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (95820944..95892057, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (94214292..94285445, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1328, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:94138406-94139394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:94139395-94140381 Neighboring gene uncharacterized LOC105375404 Neighboring gene CAS1 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:94269649-94270150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:94270151-94270650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:94284793-94285570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18381 Neighboring gene Sharpr-MPRA regulatory region 6132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26292 Neighboring gene paternally expressed 10 Neighboring gene RPS3A pseudogene 25

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. Sperandeo A, et al. Brain, 2023 Apr 19. PMID 36204995, Free PMC Article
  2. Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia. Azuma K, et al. Clin Genet, 2023 Feb. PMID 36161439
  3. ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene. Cazurro-Gutiérrez A, et al. Mol Neurobiol, 2021 Aug. PMID 33886091
  4. Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child. Aljabri MF, et al. Ital J Pediatr, 2021 Feb 15. PMID 33588860, Free PMC Article
  5. Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome. Vanegas MI, et al. Parkinsonism Relat Disord, 2020 Nov. PMID 33022436

See all (102) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1.
    Title: SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1.
  2. Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
    Title: Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
  3. Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
    Title: Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
  4. First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study.
    Title: First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study.
  5. epsilon-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
    Title: ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
  6. Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child.
    Title: Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child.
  7. Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
    Title: Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
  8. SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom.--- SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin.
    Title: [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
  9. SGCE mutations can occur in sporadic patients when the phenotype is consistent with Myoclonus-Dystonia syndrome.
    Title: Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome.
  10. The characterization of iPSC-derived cortical neurons with mutations in SGCE revealed that these cells are a suitable model mirroring the endogenous environment in the myoclonus-dystonia patient brain, especially, when focusing on concrete molecular aspects of the disease mechanism.
    Title: Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myoclonic dystonia 11
MedGen: C1834570 OMIM: 159900 GeneReviews: SGCE Myoclonus-Dystonia
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Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-11-11)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-11-11)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell-matrix adhesion TAS
Traceable Author Statement
more info
 PubMed 
involved_in muscle organ development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of sarcoglycan complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
epsilon-sarcoglycan
Names
dystonia 11, myoclonic

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008893.3 RefSeqGene

    Range
    5440..76593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_206

mRNA and Protein(s)

  1. NM_001099400.2 → NP_001092870.1  epsilon-sarcoglycan isoform 3

    See identical proteins and their annotated locations for NP_001092870.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons and contains an additional exon in the coding region, compared to variant 5. It encodes isoform 3, which shares the same termini, but is shorter than isoform 5.
    Source sequence(s)
    AB117974, AC069292, AJ000534, AY359042
    Consensus CDS
    CCDS47642.1
    UniProtKB/TrEMBL
    A0A2R8Y7J1
    Related
    ENSP00000496237.1, ENST00000642933.1
    Conserved Domains (1) summary
    pfam05510
    Location:34 → 410
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  2. NM_001099401.2 → NP_001092871.1  epsilon-sarcoglycan isoform 1

    See identical proteins and their annotated locations for NP_001092871.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region and contains an additional in-frame exon in the 3' coding region, compared to variant 5. It encodes isoform 1, which shares the same termini, but is shorter than isoform 5.
    Source sequence(s)
    AC069292, AJ000534, AL547747, AY359042
    Consensus CDS
    CCDS47643.1
    UniProtKB/TrEMBL
    A0A2R8Y4X1
    Related
    ENSP00000398930.2, ENST00000445866.7
    Conserved Domains (2) summary
    pfam05510
    Location:34 → 418
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
    pfam13900
    Location:424 → 443
    GVQW; Putative domain of unknown function

  3. NM_001301139.2 → NP_001288068.1  epsilon-sarcoglycan isoform 4

    See identical proteins and their annotated locations for NP_001288068.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive in-frame exons in the 5' coding region, compared to variant 5. It encodes isoform 4, which lacks an internal in-frame segment and is shorter, compared to isoform 5.
    Source sequence(s)
    AC069292, AK298220, AY359042
    Consensus CDS
    CCDS75634.1
    UniProtKB/TrEMBL
    B4DP78, E9PEH6
    Related
    ENSP00000394061.2, ENST00000437425.7
    Conserved Domains (1) summary
    pfam05510
    Location:33 → 377
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  4. NM_001346713.2 → NP_001333642.1  epsilon-sarcoglycan isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).
    Source sequence(s)
    AC069292, AI640287
    Consensus CDS
    CCDS87523.1
    UniProtKB/TrEMBL
    A0A2R8YGQ3, B7Z2R4
    Related
    ENSP00000496268.1, ENST00000646489.1
    Conserved Domains (1) summary
    pfam05510
    Location:73 → 455
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  5. NM_001346715.2 → NP_001333644.1  epsilon-sarcoglycan isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 3' coding region, compared to variant 5. It encodes isoform 6, which lacks an internal, in-frame segment and is shorter, compared to isoform 5.
    Source sequence(s)
    AC069292, AI640287
    Consensus CDS
    CCDS87522.1
    UniProtKB/TrEMBL
    A0A2R8Y5J3, B7Z2R4
    Related
    ENSP00000494488.1, ENST00000643272.1
    Conserved Domains (1) summary
    pfam05510
    Location:73 → 446
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  6. NM_001346717.2 → NP_001333646.1  epsilon-sarcoglycan isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two alternate in-frame exons in the coding region, compared to variant 5. It encodes isoform 7, which lacks two separate internal in-frame segments and is shorter, compared to isoform 5.
    Source sequence(s)
    AC069292, AI640287, DA164109, KU178450
    Consensus CDS
    CCDS87520.1
    UniProtKB/TrEMBL
    A0A2R8Y628, C9JR67
    Related
    ENSP00000388734.1, ENST00000447873.6
    Conserved Domains (1) summary
    pfam05510
    Location:34 → 410
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  7. NM_001346719.2 → NP_001333648.1  epsilon-sarcoglycan isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 5. It encodes isoform 8, which has a shorter N-terminus, compared to isoform 5.
    Source sequence(s)
    AC069292, AI640287
    UniProtKB/TrEMBL
    A0A2R8Y5H7

  8. NM_001346720.2 → NP_001333649.1  epsilon-sarcoglycan isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 5. It encodes isoform 9, which has a shorter N-terminus, compared to isoform 5.
    Source sequence(s)
    AC069292, AI640287
    UniProtKB/TrEMBL
    A0A2R8Y7Q5
    Conserved Domains (1) summary
    pfam05510
    Location:1 → 328
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  9. NM_001362807.2 → NP_001349736.1  epsilon-sarcoglycan isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC069292, AY359042
    UniProtKB/TrEMBL
    A0A2R8Y628
    Conserved Domains (1) summary
    pfam05510
    Location:8 → 380
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  10. NM_001362808.2 → NP_001349737.1  epsilon-sarcoglycan isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC069292, AI640287
    UniProtKB/TrEMBL
    A0A2R8Y7Q5
    Related
    ENSP00000496455.1, ENST00000644681.1
    Conserved Domains (1) summary
    pfam05510
    Location:1 → 319
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  11. NM_001362809.2 → NP_001349738.1  epsilon-sarcoglycan isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC069292, AK298220, AY359042, BQ717921
    Consensus CDS
    CCDS87519.1
    UniProtKB/TrEMBL
    A0A2R8Y448, B4DP78
    Related
    ENSP00000493751.1, ENST00000642394.1
    Conserved Domains (1) summary
    pfam05510
    Location:33 → 369
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

  12. NM_003919.3 → NP_003910.1  epsilon-sarcoglycan isoform 2

    See identical proteins and their annotated locations for NP_003910.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 5. It encodes isoform 2, which lacks an internal in-frame segment and is shorter, compared to isoform 5.
    Source sequence(s)
    AC069292, AJ000534, AY359042
    Consensus CDS
    CCDS5637.1
    UniProtKB/Swiss-Prot
    B2R8N2, D6W5Q8, E9PF60, G5E9K6, O43556, Q6L8P0, Q75MH8, Q8NFG8, Q8WW28
    UniProtKB/TrEMBL
    A0A0S2Z4P5, A0A2R8Y6V3
    Related
    ENSP00000497130.1, ENST00000648936.2
    Conserved Domains (1) summary
    pfam05510
    Location:34 → 419
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    94584980..94656133 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    95820944..95892057 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43556.6 GenPept UniProtKB/Swiss-Prot:O43556

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