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    SGCE sarcoglycan epsilon [ Homo sapiens (human) ]

    Gene ID: 8910, updated on 28-Oct-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (94584980..94656133, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (95820944..95892057, complement)
    RS_2024_09 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 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. Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia. Beukers RJ, et al. Eur J Neurol, 2011 Jun. PMID 21219543
    2. Myoclonus-dystonia due to maternal uniparental disomy. Guettard E, et al. Arch Neurol, 2008 Oct. PMID 18852357
    3. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Asmus F, et al. Mov Disord, 2009 Apr 15. PMID 19117362
    4. Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. Thümmler S, et al. Eur J Paediatr Neurol, 2009 Nov. PMID 19147379
    5. Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation. Kurtis MM, et al. Clin Neurol Neurosurg, 2010 Feb. PMID 19896264, Free PMC Article

    See all (105) 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
    		Compare labs

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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